Cardiac involvement in children with neuro-muscular disorders
Нервно-мышечные болезни, 2015 Many inherited neuromuscular disorders include cardiac involvement as a typical clinical feature. Among the most common of them is the group of muscular dystrophies.
E. N. Arkhipova
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Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]
, 2015 BackgroundDuchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Crosbie-Watson, Rachelle H +6 more
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Phenotypic and immunohistochemical characterization of sarcoglycanopathies
Clinics, 2011 INTRODUCTION: Limb-girdle muscular dystrophy presents with heterogeneous clinical and molecular features. The primary characteristic of this disorder is proximal muscular weakness with variable age of onset, speed of progression, and intensity of ...
Ana F. B. Ferreira +5 more
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Chimeric protein repair of laminin polymerization ameliorates muscular dystrophy phenotype [PDF]
, 2017 Mutations in laminin α2-subunit (Lmα2, encoded by LAMA2) are linked to approximately 30% of congenital muscular dystrophy cases. Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model ...
Crosson, Stephanie C. +5 more
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251. rAAV-Mediated Gene Therapy To Treat Limb Girdle Muscular Dystrophy Type 2D (LGMD-2D) [PDF]
, 2004 openalex +1 more source
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies [PDF]
, 2013 Dystroglycanopathies are a clinically and genetically diverse group of recessively inherited conditions ranging from the most severe of the congenital muscular dystrophies, Walker-Warburg syndrome, to mild forms of adult-onset limb-girdle muscular ...
Aileen Reghan Foley +83 more
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Arquivos de Neuro-Psiquiatria, 2014 Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic muscular dystrophies, involving 16 autosomal recessive subtypes and eight autosomal dominant subtypes.
Marco A. Veloso Albuquerque
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Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene [PDF]
, 2010 Limb-girdle muscular dystrophy 2G is caused by mutations in the telethonin (TCAP) gene in chromosome 17q11-12. This rare form of hereditary muscle disease was originally described in Brazilian patients and was recently identified in Chinese and Moldavian
Geraldo, A +3 more
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A Rare Neuromuscular Disease: Limb-girdle Muscular Dystrophy-R18 Case Report
, 2022 Gülce Coşku Yılmaz Çakan +4 more
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Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients [PDF]
, 2018 Jakub Fichna +6 more
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