ライフサイエンスコーパス: congenital myasthenic syndrome

1 genetic and kinetic defect in a slow-channel congenital myasthenic syndrome.

2 t the presynaptic motor axon, manifesting in congenital myasthenic syndrome.

3 osylation gene, GMPPB, where mutations cause congenital myasthenic syndrome.

4 ously found mutated in more typical forms of congenital myasthenic syndrome.

5 muscles in all cases suggesting presynaptic congenital myasthenic syndrome.

6 G2 as novel genes in which mutations cause a congenital myasthenic syndrome.

7 DPAGT1 as a gene in which mutations cause a congenital myasthenic syndrome.

8 entified the genetic basis for many forms of congenital myasthenic syndrome.

9 cts characteristic of the human slow-channel congenital myasthenic syndrome.

10 that is mutated in a subset of patients with congenital myasthenic syndrome.

11 receptor deficiency, the most common form of congenital myasthenic syndrome.

12 lar (LG2) domain of agrin that causes severe congenital myasthenic syndrome.

13 nd the clinical phenotype of AChR-deficiency congenital myasthenic syndrome.

14 utations in the acetylcholine receptor cause congenital myasthenic syndromes.

15 ther reveal pathogenic mechanisms underlying congenital myasthenic syndromes.

16 ion, dysfunction of which is associated with congenital myasthenic syndromes.

17 ular junction, in particular many subsets of congenital myasthenic syndromes.

18 of-function mutations found in patients with congenital myasthenic syndromes.

19 ysis, myotonias, malignant hyperthermia, and congenital myasthenic syndromes.

20 or deficiency is the most common form of the congenital myasthenic syndromes, a heterogeneous collect

21 Thus, slow-channel congenital myasthenic syndrome AChRs at the neuromuscula

22 oint biopsy samples from eight patients with congenital myasthenic syndromes affecting primarily prox

23 (AChR) deficiency is the most common form of congenital myasthenic syndrome and in most cases results

24 nce cause neuromuscular disorders, including congenital myasthenic syndrome and myasthenia gravis.

25 In both congenital myasthenic syndromes and distal myopathies, a

26 represent an important cause of presynaptic congenital myasthenic syndromes and link them with hered

27 One patient had a congenital myasthenic syndrome, and 2 had microdeletions

28 he endplate associated with the slow-channel congenital myasthenic syndrome, and acetylcholine recept

29 ed in agrin, MuSK, and LRP4 in patients with congenital myasthenic syndrome, and patients with myasth

30 Congenital myasthenic syndromes are a clinically and gen

31 Congenital myasthenic syndromes are a group of rare and

32 Congenital myasthenic syndromes are a group of rare gene

33 Congenital myasthenic syndromes are a heterogeneous grou

34 Congenital myasthenic syndromes are a heterogeneous grou

35 Congenital myasthenic syndromes are a rare group of hete

36 tor channels (AChRs) that cause slow-channel congenital myasthenic syndromes are activated by serum a

37 Congenital myasthenic syndromes are inherited disorders

38 Congenital myasthenic syndromes are inherited disorders

39 orders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by

40 ere we report that mutations in CHAT cause a congenital myasthenic syndrome associated with frequentl

41 We describe a congenital myasthenic syndrome associated with severe en

42 mutation (alpha1Leu251Arg) in a patient with congenital myasthenic syndrome associated with transform

43 NMJ dysfunction uncovered through studies in congenital myasthenic syndromes, autoimmune disorders, a

44 cular junction-specific proteins for further congenital myasthenic syndrome candidate genes.

45 GMPPB congenital myasthenic syndrome cases show clinical featu

46 escribe the genetic and kinetic defects in a congenital myasthenic syndrome caused by heteroallelic m

47 We describe a highly disabling congenital myasthenic syndrome (CMS) associated with rap

48 recently been shown to underlie a recessive congenital myasthenic syndrome (CMS) associated with sma

49 A newly defined congenital myasthenic syndrome (CMS) caused by DPAGT1 mu

50 We describe a severe congenital myasthenic syndrome (CMS) caused by two misse

51 Mutations in GFPT1 underlie a congenital myasthenic syndrome (CMS) characterized by a

52 Congenital myasthenic syndrome (CMS) due to mutations in

53 Congenital myasthenic syndrome (CMS) is a heterogeneous

54 ence of juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS) was 0.12 and 0.23 p

55 By defining the functional defect in a congenital myasthenic syndrome (CMS), we show that the t

56 ilies with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).

57 proach - studying mutant genes implicated in congenital myasthenic syndrome (CMS).

58 The congenital myasthenic syndromes (CMS) are a diverse grou

59 Congenital myasthenic syndromes (CMS) are a group of het

60 Congenital myasthenic syndromes (CMS) are a group of inh

61 Congenital myasthenic syndromes (CMS) are a rare group o

62 Many congenital myasthenic syndromes (CMS) are associated wit

63 Congenital myasthenic syndromes (CMS) are characterized

64 Congenital myasthenic syndromes (CMS) are inherited dise

65 (AChR) in 11 Turkish patients with recessive congenital myasthenic syndromes (CMS) belonging to six f

66 Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of divers

67 uses on the rarer genetic conditions, called congenital myasthenic syndromes (CMS), that often presen

68 ecognized in some patients with slow-channel congenital myasthenic syndromes (CMS).

69 f a group of neuromuscular disorders, termed congenital myasthenic syndromes (CMS).

70 (AChR) deficiency is the most common of the congenital myasthenic syndromes (CMS).

71 Congenital myasthenic syndromes (CMSs) are a group of in

72 Congenital myasthenic syndromes (CMSs) are a heterogeneo

73 Congenital myasthenic syndromes (CMSs) are increasingly

74 Congenital myasthenic syndromes (CMSs) are neuromuscular

75 Investigation of congenital myasthenic syndromes (CMSs) disclosed a diver

76 Congenital myasthenic syndromes (CMSs) stem from genetic

77 ts of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and

78 girdle subtype of the inherited NMJ disorder congenital myasthenic syndromes (CMSs), whereas complete

79 tion proteins is compromised by mutations of congenital myasthenic syndromes (CMSs).

80 Congenital myasthenic syndrome comprises a heterogeneous

81 es included metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopat

82 share clinical features similar to those of congenital myasthenic syndrome due to GFPT1 mutations, a

83 Our findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations a

84 In a disabling congenital myasthenic syndrome, EP AChE deficiency (EAD)

85 Patients with congenital myasthenic syndrome exhibit fatigable muscle

86 However, patients with GMPPB congenital myasthenic syndrome had more prominent myopat

87 ranges from the classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210L

88 (AChR) deficiency is a recessively inherited congenital myasthenic syndrome in which fatigable muscle

89 We trace the cause of congenital myasthenic syndromes in two patients to mutat

90 ry of anti-MuSK antibodies, and to a type of congenital myasthenic syndrome, in which acetylcholine r

91 One form of congenital myasthenic syndrome is due to a reduction of

92 cause the neuromuscular disorder limb-girdle congenital myasthenic syndrome (LG-CMS).

93 Clinical recognition of GMPPB-associated congenital myasthenic syndrome may be complicated by the

94 The main consequence of the congenital myasthenic syndrome mutation epsilonProD2-L w

95 taS268F mutation, as with other slow-channel congenital myasthenic syndrome mutations, causes delayed

96 ichiasis syndrome, neurofibromatosis type 1, congenital myasthenic syndrome, oculopharyngeal muscular

97 ents of this pathway will be associated with congenital myasthenic syndromes or impaired neuromuscula

98 receptor epsilon subunit, observed in seven congenital myasthenic syndrome patients, enhances expres

99 eceptor (AChR) epsilon subunit gene in three congenital myasthenic syndrome patients.

100 tionally characterized in three slow-channel congenital myasthenic syndrome patients.

101 ations in the RAPSN promoter region in eight congenital myasthenic syndrome patients.

102 e basis for a novel form of the slow-channel congenital myasthenic syndrome presenting in infancy in

103 describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad c

104 observations suggest that some patients with congenital myasthenic syndromes respond favorably to eph

105 Slow channel congenital myasthenic syndrome (SCCMS) is a disorder of

106 The slow-channel congenital myasthenic syndrome (SCCMS) is a dominantly i

107 The slow-channel congenital myasthenic syndrome (SCCMS) is caused by gain

108 familial hyperekplexia, and the slow-channel congenital myasthenic syndrome (SCCMS) may perturb the k

109 subset of these disorders, the slow-channel congenital myasthenic syndrome (SCCMS), is dominantly in

110 ses show clinical features characteristic of congenital myasthenic syndrome subtypes that are due to

111 ort of patients with a clinical diagnosis of congenital myasthenic syndrome that lacked a genetic dia

112 be part of a larger subgroup comprising the congenital myasthenic syndromes that result from defects

113 tion, unlike other mutations in slow-channel congenital myasthenic syndrome, this mutation also cause

114 - mice recapitulate major muscle findings of congenital myasthenic syndrome type 19 and serve as a di

115 L13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome type 19.

116 AGT1, ALG14 and ALG2 mutations as a cause of congenital myasthenic syndrome underscores the importanc

117 in seven cases from five kinships defined as congenital myasthenic syndrome using decrement of compou

118 gain-of-function nAChR mutants associated to congenital myasthenic syndromes, which could be importan

119 We describe a severe postsynaptic congenital myasthenic syndrome with marked endplate acet

120 hannel conductance as an underlying cause of congenital myasthenic syndrome, with the 'low conductanc