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

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

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

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

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

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

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

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

19 In both congenital myasthenic syndromes and distal myopathies, a

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

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

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

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

24 Congenital myasthenic syndromes are a clinically and gen

25 Congenital myasthenic syndromes are a group of rare and

26 Congenital myasthenic syndromes are a group of rare gene

27 Congenital myasthenic syndromes are a heterogeneous grou

28 Congenital myasthenic syndromes are a heterogeneous grou

29 Congenital myasthenic syndromes are a heterogeneous grou

30 Congenital myasthenic syndromes are a rare group of hete

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

32 Congenital myasthenic syndromes are inherited disorders

33 Congenital myasthenic syndromes are inherited disorders

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

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

36 We describe a congenital myasthenic syndrome associated with severe en

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

38 GMPPB congenital myasthenic syndrome cases show clinical featu

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

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

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

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

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

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

45 Congenital myasthenic syndrome (CMS) due to mutations in

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

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

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

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

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

51 Many congenital myasthenic syndromes (CMS) are associated wit

52 Congenital myasthenic syndromes (CMS) are inherited dise

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

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

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

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

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

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

59 Congenital myasthenic syndromes (CMSs) are a heterogeneo

60 Congenital myasthenic syndromes (CMSs) are increasingly

61 Congenital myasthenic syndromes (CMSs) are neuromuscular

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

63 Congenital myasthenic syndromes (CMSs) stem from genetic

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

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

66 Congenital myasthenic syndrome comprises a heterogeneous

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

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

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

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

71 Patients with congenital myasthenic syndrome exhibit fatigable muscle

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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