Results 21 to 30 of about 333,621 (210)
Myopathy of distal lower limbs: the clinical variant of Miyoshi
Arquivos de Neuro-Psiquiatria, 2003 Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N. +5 more
doaj +1 more source
Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study. [PDF]
PLoS ONEADSS1 myopathy (previously referred to as ADSSL1 myopathy) is a rare autosomal recessive muscle disease caused by mutations in the ADSS1 gene, which encodes an enzyme critical for purine nucleotide synthesis.
Soo-Hyun Kim +4 more
doaj +2 more sources
Current advance on distal myopathy genetics. [PDF]
Curr Opin NeurolPurpose of review Distal myopathies are a clinically heterogenous group of rare, genetic muscle diseases, that present with weakness in hands and/or feet at onset.
Ranta-Aho J, Johari M, Udd B.
europepmc +2 more sources
Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination [PDF]
Journal of Neurology, 2020 Torsten Kraya +2 more
exaly +2 more sources
Neurologic Clinics, 2014 In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important
Mazen M, Dimachkie, Richard J, Barohn
openaire +2 more sources
Mutations in the J domain of DNAJB6 cause dominant distal myopathy. [PDF]
Neuromuscul Disord, 2020 Eight patients from five families with undiagnosed dominant distal myopathy underwent clinical, neurophysiological and muscle biopsy examinations. Molecular genetic studies were performed using targeted sequencing of all known myopathy genes followed by ...
Palmio J +16 more
europepmc +2 more sources
An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
eNeurologicalSci, 2020 Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara +7 more
doaj +1 more source
The challenging diagnosis of dysferlinopathy – a case report [PDF]
Romanian Journal of Neurology, 2021 Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc +4 more
doaj +1 more source
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
Journal of Medical Case Reports, 2012 Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene.
Neusch Clemens +3 more
doaj +1 more source