Results 101 to 110 of about 258 (116)
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Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations [PDF]
International Journal of Molecular Sciences, 2019 Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb muscles that usually appears in ...
Neia Naldaiz-Gastesi +2 more
exaly +2 more sources
Journal of Neuromuscular Diseases, 2020
Background: Limb girdle muscular dystrophy recessive type 1 (LGMDR1, Previously LGMD2A) is characterized by inactivating mutations in CAPN3. Despite the significant burden of muscular dystrophy in India, and particularly of LGMDR1, its genetic characterization and possible phenotypic manifestations are yet ...
Pankaj, Pathak +10 more
openaire +2 more sources
Background: Limb girdle muscular dystrophy recessive type 1 (LGMDR1, Previously LGMD2A) is characterized by inactivating mutations in CAPN3. Despite the significant burden of muscular dystrophy in India, and particularly of LGMDR1, its genetic characterization and possible phenotypic manifestations are yet ...
Pankaj, Pathak +10 more
openaire +2 more sources
A Molecular Diagnosis of LGMDR1 Established by RNA Sequencing
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2020Stefan Nicolau +7 more
openaire +2 more sources
Phenotypic variability in Tunisian LGMDR1 patients harboring c.1194-9A>G splicing mutation
Journal of the Neurological Sciences, 2023Ikhlass Belhassen +6 more
openaire +1 more source
Prospective Natural History Study in 24 Adult Patients With LGMDR12 Over 2 Years of Follow-up
Neurology, 2022Ronald Peeters +2 more
exaly