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Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

, 2008
Fourteen years ago, the first disease-causing mutation in a form of autosomal recessive limb-girdle muscular dystrophy was reported. Since then the number of genes has been extended to at least 14 and the phenotypic spectrum has been broadened.
Straub VW, Bushby KMD
core   +3 more sources

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 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. [PDF]

Orphanet J Rare Dis, 2020
Mojbafan M, Bahmani R, Bagheri SD, Sharifi Z, Zeinali S.   +4 more
europepmc   +1 more source

The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon? [PDF]

Neurotherapeutics, 2018
Chu ML, Moran E.
europepmc   +1 more source

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings. [PDF]

Hum Mutat
Yousaf H, Khalid LB, Ahmed A, Ghumman RZ, Hassan S, Zahra H, Zafar G, Rubab K, Azakai H, Khan HN, Mahmood Q, Ali A, Mian BA, Ali Z, Raza M, Bano S, Mukhtiar K, Abdullah U, Ibrahim SH, Baig SM, Toft M, Kirmani S, Iqbal Z, Fatima A.   +23 more
europepmc   +1 more source

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

Front Neurol, 2019
Strafella C, Campoli G, Galota RM, Caputo V, Pagliaroli G, Carboni S, Zampatti S, Peconi C, Mela J, Sancricca C, Primiano G, Minozzi G, Servidei S, Cascella R, Giardina E.   +14 more
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand? [PDF]

J Neuromuscul Dis
Faedo E, Tahiri I, Alimi C, Shoaito H, Severa G, Olivier S, Degove S, Richard I, Malfatti E.   +8 more
europepmc   +1 more source

Limb-girdle muscular dystrophies: A scoping review and overview of currently available rehabilitation strategies. [PDF]

Muscle Nerve
D'Este G, Spagna M, Federico S, Cacciante L, Cieślik B, Kiper P, Barresi R.   +6 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source