ライフサイエンスコーパス: distal myopathy

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1 ral sclerosis (fALS) and more rarely causing distal myopathy.

2 reviously known to cause dominant late-onset distal myopathy.

3 muscle weakness and atrophy reminiscent of a distal myopathy.

4 myopathy (WDM), a classic autosomal dominant distal myopathy.

5 In both congenital myasthenic syndromes and distal myopathies, a significant number of patients rema

6 The MATR3 gene is mutated in a form of distal myopathy and amyotrophic lateral sclerosis (ALS).

7 red in patients with adult-onset proximal or distal myopathy and early respiratory failure, even in t

8 quencing in a family with autosomal dominant distal myopathy and muscle biopsy features of both minic

9 , such as limb-girdle muscular dystrophy-1C, distal myopathy, and rippling muscle disease, that are c

10 Distal myopathies are a heterogeneous group of disorders

11 een patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutatio

12 ysis in this family revealed a new locus for distal myopathy at 9p21.2-p22.3 (multipoint logarithm of

13 ked to any of the known loci associated with distal myopathies, confirming that the disorder in this

14 of the well-characterized autosomal dominant distal myopathy families, the Markesbery et al. family,

15 tionale for examining patients with apparent distal myopathy for a neuromuscular transmission disorde

16 Distal myopathies form another clinically and geneticall

17 Distal myopathies have been associated with mutations in

18 previously reported families, MATR3-related distal myopathy might be associated with relevant axial,

19 Laing distal myopathy (MPD1) is a genetically dominant myopath

20 muscular dystrophy 2B, Miyoshi myopathy, and distal myopathy of anterior tibialis are severely debili

21 Distal myopathy refers to a heterogeneous group of disor

22 to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant dist

23 nique form of early onset autosomal dominant distal myopathy which is associated with a Kelch-like ho

24 opathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset).

25 knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal an

26 t a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in w

27 rd and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscl

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