Results 11 to 20 of about 17,793 (220)

Panorama of the distal myopathies. [PDF]

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020
Peer ...
Savarese, Marco, Sarparanta, Jaakko, Vihola, Anna, Jonson, Per Harald, Johari, Mridul, Rusanen, Salla, Hackman, Peter, Udd, Bjarne   +7 more
core   +7 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, Jonson PH, Inoue M, Sarparanta J, Bengoechea R, Savarese M, Vihola A, Jokela M, Nakagawa M, Noguchi S, Olivé M, Masingue M, Kerty E, Hackman P, Weihl CC, Nishino I, Udd B.   +16 more
europepmc   +2 more sources

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy

Neuromuscular Disorders, 2011
Mutations in the nebulin gene are the main cause of autosomal recessive nemaline myopathy, with clinical presentations ranging from mild to severe disease.
Vilma-Lotta Lehtokari, Jean Pouget, Maja Von Der Hagen   +2 more
exaly   +2 more sources

Sporadic distal myopathy

Journal of Neurology, 1981
The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.
Vaccario, Maria Luigia, Scoppetta, C, Bracaglia, Roberto, Uncini, A.   +3 more
openaire   +4 more sources

Symptomatic distal myopathy with cardiomyopathy due to a MYH7 mutation

Neuromuscular Disorders, 2007
Contains fulltext : 52264timmermans.pdf (Publisher’s version ) (Closed access)Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy ...
Sebastiaan Overeem, Helenius J Schelhaas, H J Ter Laak   +2 more
exaly   +2 more sources

New phenotype and pathology features in MYH7-related distal myopathy

Neuromuscular Disorders, 2012
Laing distal myopathy is an autosomal dominant disease due to mutations in the gene encoding for the human slow-β myosin heavy chain, MYH7. Most reports describe it as a mild, early onset myopathy with involvement usually restricted to foot extensors ...
Giorgio Tasca, Enzo Ricci, Sini Penttila   +2 more
exaly   +2 more sources

Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy. [PDF]

Genes (Basel)
Autosomal recessive Nonaka distal myopathy is a rare autosomal recessive genetic disease characterized by progressive degeneration of the distal muscles, causing muscle weakness and decreased grip strength.
Tamanna N, Pi BK, Lee AJ, Kanwal S, Choi BO, Chung KW.   +5 more
europepmc   +2 more sources

Vocal Cord and Pharyngeal Weakness with Autosomal Dominant Distal Myopathy: Clinical Description and Gene Localization to 5q31

American Journal of Human Genetics, 1998
SummaryDistal myopathy refers to a heterogeneous group of disorders in which the initial manifestations are weakness and atrophy of the hands and feet.
Howard Feit, Jorge A Gutierrez, C E Jackson   +2 more
exaly   +2 more sources

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., Freitas Marcos R.G. de, Nascimento Osvaldo J.M., Silva Lenilda Ferreira da, Freitas Andréa R. de, Werneck Lineu C.   +5 more
doaj   +1 more source

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case [PDF]

Frontiers in Genetics
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides ...
Daniele Velardo, Claudia Alberti, Delia Gagliardi, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Simona Zanotti, Michela Ripolone, Michele Giovanni Croce, Giuseppe Cosentino, Giuseppe Cosentino, Gabriele Tumminello, Marco Locatelli, Marco Locatelli, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Sabrina Ravaglia, Dario Ronchi, Dario Ronchi   +20 more
doaj   +2 more sources