U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Limb-Girdle Muscular Dystrophy, Recessive

MedGen UID:
893452
•Concept ID:
CN239352
•
Disease or Syndrome

Professional guidelines

PubMed

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M
J Neuromuscul Dis 2021;8(1):125-136. doi: 10.3233/JND-200547. PMID: 33337384
Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?
Cotta A, Carvalho E, da-Cunha-Júnior AL, Paim JF, Navarro MM, Valicek J, Menezes MM, Nunes SV, Xavier Neto R, Takata RI, Vargas AP
Arq Neuropsiquiatr 2014 Sep;72(9):721-34. doi: 10.1590/0004-282x20140110. PMID: 25252238
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L, Dekomien G, Aboumousa A, Charlton R, Epplen JT, Barresi R, Bushby K, Straub V
Neuromuscul Disord 2008 Dec;18(12):934-41. Epub 2008 Nov 7 doi: 10.1016/j.nmd.2008.08.003. PMID: 18996010

Recent clinical studies

Etiology

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M
Turk J Med Sci 2024;54(1):86-98. Epub 2023 Dec 18 doi: 10.55730/1300-0144.5769. PMID: 38812636Free PMC Article

Diagnosis

A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort.
Şahin İO, Karataş E, Demir M, Tan B, Per H, Özkul Y, Dündar M
Turk J Med Sci 2024;54(1):86-98. Epub 2023 Dec 18 doi: 10.55730/1300-0144.5769. PMID: 38812636Free PMC Article
Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
Zhang C, Zheng X, Lu D, Xu L, Che F, Liu S
Mol Med Rep 2021 Jun;23(6) Epub 2021 Apr 26 doi: 10.3892/mmr.2021.12119. PMID: 33899113Free PMC Article
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M
J Neuromuscul Dis 2021;8(1):125-136. doi: 10.3233/JND-200547. PMID: 33337384
Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S
J Gene Med 2020 Nov;22(11):e3272. Epub 2020 Sep 28 doi: 10.1002/jgm.3272. PMID: 32889728

Therapy

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M
J Neuromuscul Dis 2021;8(1):125-136. doi: 10.3233/JND-200547. PMID: 33337384

Prognosis

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S
J Gene Med 2020 Nov;22(11):e3272. Epub 2020 Sep 28 doi: 10.1002/jgm.3272. PMID: 32889728

Clinical prediction guides

Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) Patients in India.
Pathak P, Sharma MC, Jha P, Sarkar C, Faruq M, Jha P, Suri V, Bhatia R, Singh S, Gulati S, Husain M
J Neuromuscul Dis 2021;8(1):125-136. doi: 10.3233/JND-200547. PMID: 33337384
Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels.
Casas-Fraile L, Cornelis FM, Costamagna D, Rico A, Duelen R, Sampaolesi MM, López de Munain A, Lories RJ, Sáenz A
Orphanet J Rare Dis 2020 May 24;15(1):119. doi: 10.1186/s13023-020-01372-1. PMID: 32448375Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...