ライフサイエンスコーパス: congenital myopathy

1 ions should be considered in patients with a congenital myopathy.

2 individuals from six unrelated kindreds with congenital myopathy.

3 mutation in a family clinically manifesting congenital myopathy.

4 pathy (NM) is the most common non-dystrophic congenital myopathy.

5 lin-2, which is mutated in two siblings with congenital myopathy.

6 of genomic DNA from 37 patients with severe congenital myopathy.

7 myotonia, periodic paralysis, myasthenia, or congenital myopathy.

8 ovide insight into the mechanisms underlying congenital myopathies.

9 hen designing gene therapies for ACTA1-based congenital myopathies.

10 from the classic essentially non-progressive congenital myopathies.

11 nd novel therapeutic agent for patients with congenital myopathies.

12 hannel, result in an overlapping spectrum of congenital myopathies.

13 gy, structural defects found in a variety of congenital myopathies.

14 ies), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy

15 ings will improve the molecular diagnosis of congenital myopathies and implicate the mitogen-activate

16 utations in the gene encoding LMOD3 underlie congenital myopathy and demonstrate that LMOD3 is essent

17 ypher knockout mice display a severe form of congenital myopathy and die postnatally from functional

18 This report describes a congenital myopathy and major loss of thymic lymphocytes

19 e pathological and clinical heterogeneity of congenital myopathies, and the overlap between the diffe

20 Congenital myopathies are a clinically and genetically h

21 The congenital myopathies are a diverse group of genetic ske

22 Congenital myopathies are clinically and genetically het

23 Approximately 40% of congenital myopathies are currently genetically unresolv

24 Classically, the congenital myopathies are defined by skeletal muscle dys

25 Congenital myopathies are genetically and clinically het

26 The muscular dystrophies and congenital myopathies are inherited diseases of the skel

27 e pathophysiological concepts underlying the congenital myopathies are moving into sharper focus.

28 Congenital myopathies are phenotypically and genetically

29 ations in RYR1 were the most common cause of congenital myopathies at 1:90,000.

30 X-linked myotubular myopathy is a congenital myopathy caused by deficiency of myotubularin

31 X-linked myotubular myopathy is a severe congenital myopathy caused by deficiency of the lipid ph

32 Mutations in the alpha7 integrin gene cause congenital myopathy characterized by delayed development

33 dentified a family with dominantly inherited congenital myopathy characterized by distal weakness and

34 Central core disease (CCD) is a human congenital myopathy characterized by fetal hypotonia and

35 PM3, encoding alpha-tropomyosinslow, cause a congenital myopathy characterized by generalized muscle

36 Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and

37 Myosin storage myopathy (MSM) is a congenital myopathy characterized by the presence of sub

38 coding region could be associated with some congenital myopathy conditions.

39 Congenital myopathies define a heterogeneous group of ne

40 To identify novel genetic causes of congenital myopathies, exome sequencing was performed in

41 Stemming from recent advances in the congenital myopathy field, five key pathophysiology them

42 ecific knockout models that recapitulate the congenital myopathy, gene expression, and spliceopathy d

43 Over the past decade, more than 20 new congenital myopathy genes have been identified.

44 of clinical and pathological features in the congenital myopathies has led to the recognition that di

45 muscle activity could cause or contribute to congenital myopathies if Runx1 or its target genes were

46 this, we determined the point prevalence of congenital myopathies in a well-defined pediatric popula

47 Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs.

48 athophysiological themes, here we review the congenital myopathies in relation to these emerging path

49 The prevalence of congenital myopathies in the United States has not been

50 ides the first estimate of the prevalence of congenital myopathies in the United States.

51 The congenital myopathies include a wide spectrum of clinica

52 Multiple congenital myopathies, including nemaline myopathy, can

53 Nemaline myopathy, one of the most common congenital myopathies is associated with mutations in va

54 yopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular

55 mery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in

56 Some congenital myopathy patients have a hypercontractile phe

57 mice is reminiscent of that found in severe congenital myopathy patients, many of whom also die of r

58 (19%) had variants in genes associated with congenital myopathies, reflecting overlapping features o

59 utations in RYR1 are associated with several congenital myopathies (termed RYR1-related myopathies) t

60 myopathy (NM) is the most common of several congenital myopathies that present with skeletal muscle

61 Nemaline myopathy (NM) is a congenital myopathy that can result in lethal muscle dys

62 nt and perhaps complementary grouping of the congenital myopathies, that at the same time could help

63 enance in humans, and expand the spectrum of congenital myopathies to include cell-cell fusion defici

64 and has been associated with myasthenia and congenital myopathy, while a mix of loss and gain of fun

65 ested nemaline myopathy, a common subtype of congenital myopathy, while the other 2 had a nonspecific

66 It also provides a brief summary of the congenital myopathies with myasthenic features.

67 luding disorders traditionally classified as congenital myopathies with structural abnormalities, adu

68 We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and addi