Recurrent Rhabdomyolysis in a Medical Cadet during Military Training as a Rare Initial Presentation in Calpainopathy [PDF]
Case Reports in Neurological MedicineRhabdomyolysis, an emergency medical condition linked to muscle necrosis and intracellular substances released into the bloodstream, significantly endangers military personnel in heat-stress conditions.
Sethapong Lertsakulbunlue +3 more
doaj +3 more sources
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach [PDF]
Neuromuscular Disorders, 2001 Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle ...
L V B Anderson +2 more
exaly +5 more sources
Myocardial strain analysis using cardiac magnetic resonance in patients with calpainopathy [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Limb–girdle muscular dystrophy (LGMD) is a genetically and clinically heterogeneous group of rare muscular dystrophies. Subtype 2A (LGMD2A) also known as “calpainopathy” is an inherited autosomal recessive gene defect.
Silvio Quick +8 more
doaj +4 more sources
Calpainopathy—A Survey of Mutations and Polymorphisms [PDF]
American Journal of Human Genetics, 1999 SummaryLimb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles.
Isabelle Richard +2 more
exaly +8 more sources
Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency. [PDF]
Hum MutatLimb–girdle muscular dystrophy Type 2A/R1 or calpain-3 deficiency is the most common autosomal recessive limb–girdle muscular dystrophy. However, in recent years, autosomal dominant cases and families with calpain-3 deficiency have been reported, and ...
Krag T +8 more
europepmc +3 more sources
Calpainopathy with macrophage-rich, regional inflammatory infiltrates [PDF]
Neuromuscular Disorders, 2017 Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres.
Renata S Scalco +2 more
exaly +6 more sources
A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort. [PDF]
Turk J Med SciBackground and aim: Calpainopathy, also known as limb-girdle muscular dystrophy recessive type 1, is a progressive muscle disorder that impacts the muscles around the hips and shoulders.
Şahin İO +6 more
europepmc +4 more sources
A rare case of late‐onset limb‐girdle muscular dystrophy: Calpainopathy [PDF]
Aging Medicine, 2022 Limb-girdle muscular dystrophy is a genetic disorder usually presenting in younger age patients. This case report presents a case of late-onset limb-girdle muscular dystrophy type R1 (Calpainopathy) in a 65 year old patient.
Bhawana Painkra +4 more
doaj +4 more sources
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report [PDF]
Frontiers in Neurology, 2019 The diagnosis of LGMD2A (calpainopathy) can be challenging due to genetic heterogeneity and to high similarity with other LGMDs or neuromuscular disorders. In this setting, NGS panels are highly recommended to perform differential diagnosis, identify new
Claudia Strafella +19 more
doaj +2 more sources
Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region [PDF]
Italian Journal of PediatricsBackground Limb Girdle Muscular Dystrophy (LGMD) is a heterogeneous group of muscle diseases that are common in childhood. This study aimed to determine the clinical, histopathological, genetic features characteristics of among pediatric patients with ...
Duygu Güner Özcanyüz +7 more
doaj +2 more sources