Results 81 to 90 of about 10,549 (211)
Limb-girdle muscular dystrophies [PDF]
Neurologie pro praxi, 2021 Lenka Fajkusová, Jana Zídková
openaire +2 more sources
Etiopathogenesis of Immune‐Mediated Necrotizing Myopathy: A Comprehensive Review of Recent Advances
CNS Neuroscience &Therapeutics, Volume 32, Issue 5, May 2026.This review systematically clarifies that the core of IMNM begins with specific autoantibodies, which in turn trigger complement activation, immune cell infiltration, and a storm of inflammatory factors. Together, these processes induce regulatory cell death and mitochondrial dysfunction, ultimately leading to muscle fiber necrosis. Genetic factors and
Chang Gao +4 more
wiley +1 more source
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I.
, 2004 Mutations in the gene encoding fukutin-related protein cause limb-girdle muscular dystrophy 2I. In this multicenter retrospective analysis of 38 patients, 55.3% had cardiac abnormalities, of which 24% had developed cardiac failure.
Voit, T +12 more
core +1 more source
Health Science Reports, Volume 9, Issue 5, May 2026.ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir +9 more
wiley +1 more source
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
doaj +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
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. The aim of this study is to collate available Indian information on LGMDs and put it in perspective.
Satish V Khadilkar +3 more
openaire +3 more sources
Stem Cell ResearchLamin A/C is a protein encoded by the LMNA gene and belongs to the nuclear lamina protein family. Mutations in the LMNA gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy ...
Dandan Liu +6 more
doaj +1 more source
, 2022 In this paper, we aimed to report a case of limb-girdle muscular dystrophy with diabetes mellitus who admitted to our outpatient clinic with paresthesia in all four limbs and swelling and pain in both ankles and waist.
UYSAL, Hasan +2 more
core +1 more source
A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome
Asian Journal of Medical Sciences, 2016 Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj +1 more source