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1 Sweden) suffering from an autosomal dominant distal myopathy.
2 nopathy is thus a new genetically determined distal myopathy.
3 myopathy (WDM), a classic autosomal dominant distal myopathy.
4 reviously known to cause dominant late-onset distal myopathy.
5 ral sclerosis (fALS) and more rarely causing distal myopathy.
6 muscle weakness and atrophy reminiscent of a distal myopathy.
7  In both congenital myasthenic syndromes and distal myopathies, a significant number of patients rema
8       The MATR3 gene is mutated in a form of distal myopathy and amyotrophic lateral sclerosis (ALS).
9 red in patients with adult-onset proximal or distal myopathy and early respiratory failure, even in t
10 quencing in a family with autosomal dominant distal myopathy and muscle biopsy features of both minic
11 , such as limb-girdle muscular dystrophy-1C, distal myopathy, and rippling muscle disease, that are c
12                                              Distal myopathies are a heterogeneous group of disorders
13 een patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutatio
14 ysis in this family revealed a new locus for distal myopathy at 9p21.2-p22.3 (multipoint logarithm of
15 ked to any of the known loci associated with distal myopathies, confirming that the disorder in this
16 of the well-characterized autosomal dominant distal myopathy families, the Markesbery et al. family,
17 tionale for examining patients with apparent distal myopathy for a neuromuscular transmission disorde
18                                              Distal myopathies form another clinically and geneticall
19                                              Distal myopathies have been associated with mutations in
20  previously reported families, MATR3-related distal myopathy might be associated with relevant axial,
21                                        Laing distal myopathy (MPD1) is a genetically dominant myopath
22  are the predominant mutations causing Laing distal myopathy (MPD1), an autosomal dominant disorder c
23 muscular dystrophy 2B, Miyoshi myopathy, and distal myopathy of anterior tibialis are severely debili
24                                              Distal myopathy refers to a heterogeneous group of disor
25  to identify the molecular cause of Welander distal myopathy (WDM), a classic autosomal dominant dist
26 nique form of early onset autosomal dominant distal myopathy which is associated with a Kelch-like ho
27 opathy phenotype (MM, limb girdle dystrophy, distal myopathy with anterior tibial onset).
28 knowledge, this pedigree displays a distinct distal myopathy with the added features of pharyngeal an
29 t a family segregating an autosomal dominant distal myopathy, with multiple affected individuals in w
30 rd and pharyngeal weakness may accompany the distal myopathy, without involvement of the ocular muscl