Results 91 to 100 of about 1,438 (185)
A new phenotype of dysferlinopathy with congenital onset
Neuromuscular Disorders, 2009 We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted.
Paradas, C +8 more
openaire +3 more sources
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy
, 2020 © 2017 Svetlana F. Khaiboullina et al. Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting.
Yakovlev I. +7 more
core
, 2022 Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported.
Mori-Yoshimura, Madoka +87 more
core +1 more source
The Role of Repeat Skeletal Muscle Biopsy: Indications, Yield and Outcomes
Muscle &Nerve, Volume 72, Issue 2, Page 217-223, August 2025.ABSTRACT Introduction/Aims Muscle biopsy performed to investigate weakness and/or pain may be nondiagnostic and prompt repeat biopsy. We determined the indications and yield of rebiopsy. Methods Patients who underwent > 1 muscle biopsy (South Australia, 2000–2023) were identified.
Thomas Khoo +4 more
wiley +1 more source
British Journal of Pharmacology, Volume 182, Issue 13, Page 2930-2949, July 2025.Abstract Background and Purpose Limb‐girdle muscular dystrophy R2 (LGMD R2) is a rare genetic disorder characterised by progressive weakness and wasting of proximal muscles. LGMD R2 is caused by the loss of function of dysferlin, a transmembrane protein crucial for plasma membrane repair in skeletal muscles.
Celine Bruge +10 more
wiley +1 more source
Non-invasive protein analysis in the first dysferlinopathy Croatian families
, 2011 Mutations in human dysferlin (DYSF) gene cause both limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM), also named dysferlinopathy.
Nina Canki-Klain +2 more
core +1 more source
Two cases with dysferlinopathy
Türk Nöroloji Dergisi, 2011 Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13). In this report, we present 2 cases with dysferlinopathy whose diagnosis were confirmed by clinical and ...
Gaye Eryaşar +5 more
openaire +2 more sources
Limb-girdle muscular dystrophies in India: A review
Annals of Indian Academy of Neurology, 2017 Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies.
Satish V Khadilkar +3 more
doaj +1 more source
, 2017 Dysferlinopathy, caused by a dysferlin gene mutation, is a clinically heterogeneous autosomal recessive muscle disease characterized by progressive muscle degeneration.
Cali-Daylan, Ayse Ece, Dincer, Pervin
core +1 more source
Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells
Stem Cells Translational Medicine, 2019 Dysferlinopathy is a progressive muscle disorder that includes limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy (MM). It is caused by mutations in the dysferlin (DYSF) gene, whose function is to reseal the muscular membrane.
Yuko Kokubu +9 more
doaj +1 more source