Results 31 to 40 of about 466 (135)

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing. [PDF]

Mol Genet Genomic Med
Targeted routine testing combined with NGS approaches enabled effective genetic diagnosis of muscular dystrophies in Moroccan patients, with nearly half of cases resolved by first‐line testing and additional diagnoses obtained through targeted sequencing and whole‐exome sequencing.
Rahmuni Y, Ratbi I, Lyahyai J, Jaouad IC, Batta O, Sbiti A, Sahli M, Askander O, Rchiad Z, Sefiani A.   +9 more
europepmc   +2 more sources

Clinical variability in calpainopathy: What makes the difference? [PDF]

European Journal of Human Genetics, 2002
Limb girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic disorders characterised by progressive weakness of the pelvic and shoulder girdle muscles and a great variability in clinical course. LGMD2A, the most prevalent form of LGMD, is caused by mutations in the calpain-3 gene (CAPN-3).
DE PAULA F, VAINZOF M, PASSOS BUENO MR, DE CASSIA M. PAVANELLO R, MATIOLI SR, V. B. ANDERSON L, NIGRO, Vincenzo, ZATZ M.   +7 more
openaire   +5 more sources

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

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, Claudia Strafella, Giulia Campoli, Rosaria Maria Galota, Valerio Caputo, Valerio Caputo, Giulia Pagliaroli, Stefania Carboni, Stefania Zampatti, Cristina Peconi, Julia Mela, Cristina Sancricca, Cristina Sancricca, Guido Primiano, Giulietta Minozzi, Serenella Servidei, Raffaella Cascella, Raffaella Cascella, Emiliano Giardina, Emiliano Giardina   +19 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9. [PDF]

Ann Clin Transl Neurol
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Miller CL, Coffey LN, Mockler SRH, Laubscher KM, Stephan CM, Zimmerman MB, Mathews KD.   +6 more
europepmc   +2 more sources

Novel CAPN3 variant associated with an autosomal dominant calpainopathy [PDF]

Neuropathology and Applied Neurobiology, 2020
AimsThe most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant ...
M. Cerino, E. Campana‐Salort, A. Salvi, P. Cintas, D. Renard, R. Juntas Morales, C. Tard, F. Leturcq, T. Stojkovic, N. Bonello‐Palot, S. Gorokhova, J. Mortreux, A. Maues De Paula, N. Lévy, J. Pouget, M. Cossée, M. Bartoli, M. Krahn, S. Attarian   +18 more
openaire   +3 more sources

Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene

Annals of Indian Academy of Neurology, 2016
Background and Purpose: Diagnostic evaluation of limb-girdle muscular dystrophy type 2A (LGMD2A) involves specialized studies on muscle biopsy and mutation analysis.
Satish V Khadilkar, Chetan R Chaudhari, Rashna S Dastur, Pradnya S Gaitonde, Jayendra G Yadav   +4 more
doaj   +1 more source

Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

Orphanet Journal of Rare Diseases, 2020
Background Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high ...
Marzieh Mojbafan, Reza Bahmani, Samira Dabbagh Bagheri, Zohreh Sharifi, Sirous Zeinali   +4 more
doaj   +1 more source

Case Report: Calpainopathy Presenting After Bone Marrow Transplantation, With Studies of Donor Genetic Content in Various Tissue Types

Frontiers in Neurology, 2021
We present a patient who had two allogeneic bone marrow transplantations for acute lymphocytic leukemia. She developed slowly progressive limb-girdle weakness in the context of other symptoms of graft-vs.-host disease (GVHD).
Kristina Martens, Jamie Leckie, Daniel Fok, Robyn A. Wells, Sameer Chhibber, Gerald Pfeffer, Gerald Pfeffer   +6 more
doaj   +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.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
doaj   +1 more source

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report

BMC Musculoskeletal Disorders, 2021
Background Autosomal recessive limb–girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene
Evelina Siavrienė, Gunda Petraitytė, Birutė Burnytė, Aušra Morkūnienė, Violeta Mikštienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė   +8 more
doaj   +1 more source