Results 171 to 180 of about 7,635 (221)

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report. [PDF]

Acta Myol
Majoul MS, Zouari R, Hassine A, Mokni M, Ben Sassi S.   +4 more
europepmc   +1 more source

A Rare Coexistence of Anti-CN1A and Anti-NXP2 Myositis-Specific Antibodies in a 63-Year-Old Female From the Philippines With Chronic Progressive Myopathy: A Case Report. [PDF]

Cureus
Cope PMM, Evangelista JC, Libiran MB, Damian LF.   +3 more
europepmc   +1 more source

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe. [PDF]

Eur J Neurol
Sian V, Di Feo MF, Kurbatov S, Vihola A, Luque H, Konovalov F, Peric S, Duffy C, Kornblum C, Claeys KG, Hackman P, Udd B, Savarese M.   +12 more
europepmc   +1 more source

The Spectrum of Cutaneous Manifestations in Dermatomyositis: A Comprehensive Review. [PDF]

J Clin Med
Kutwin M, Karp P, Kądziela M, Siennicka A, Żebrowska A.   +4 more
europepmc   +1 more source

Distal myopathies

Current Opinion in Neurology, 2005
The distal myopathies are a heterogeneous group of disorders that pose a challenge to both the clinician and geneticist. This article summarizes the findings of recent clinical, genetic and molecular studies and the current diagnostic approach to this group of patients.Publications over the past 5 years describe a number of new clinical phenotypes and ...
Mastaglia, F.L., Lamont, P.J., Laing, N.G.   +2 more
openaire   +3 more sources

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Distal Myopathies

Neurologic Clinics, 2020
The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. Patients present with weakness of the hands, distal lower extremities, or both. Age of onset varies from early childhood to late adulthood. Most of the disorders causing distal myopathic weakness are genetically based.
Kevin J Felice
exaly   +3 more sources