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Page 1
Unmet needs and evolving treatment for limb girdle muscular dystrophies.
Pozsgai E, Griffin D, Potter R, Sahenk Z, Lehman K, Rodino-Klapac LR, Mendell JR. Pozsgai E, et al. Neurodegener Dis Manag. 2021 Oct;11(5):411-429. doi: 10.2217/nmt-2020-0066. Epub 2021 Sep 2. Neurodegener Dis Manag. 2021. PMID: 34472379 Free article. Review.
Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. ...Early success in clinical trials provides a template to move the field forward and potentially apply emerging technology like CRISPR/Cas9 that may enhance the scope and e …
Limb-girdle muscular dystrophies (LGMDs) represent a major group of muscle disorders. ...Early success in clinical tria …
Untangling the complexity of limb-girdle muscular dystrophies.
Liewluck T, Milone M. Liewluck T, et al. Muscle Nerve. 2018 Aug;58(2):167-177. doi: 10.1002/mus.26077. Epub 2018 Feb 7. Muscle Nerve. 2018. PMID: 29350766 Review.
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with a childhood to adult onset, manifesting with hip- and shoulder-girdle muscle weakness. When the term LGMD …
The limb-girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous, autosomal inherited mu …
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).
Kramerova I, Beckmann JS, Spencer MJ. Kramerova I, et al. Biochim Biophys Acta. 2007 Feb;1772(2):128-44. doi: 10.1016/j.bbadis.2006.07.002. Epub 2006 Jul 15. Biochim Biophys Acta. 2007. PMID: 16934440 Free article. Review.
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 protease. Mutations in this disease are inherited in an autosomal recessive fashion and result in progressive proximal skeletal …
Limb girdle muscular dystrophy type 2A results from mutations in the gene encoding the calpain 3 p …
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.
Baghdiguian S, Richard I, Martin M, Coopman P, Beckmann JS, Mangeat P, Lefranc G. Baghdiguian S, et al. J Mol Med (Berl). 2001 Jun;79(5-6):254-61. doi: 10.1007/s001090100225. J Mol Med (Berl). 2001. PMID: 11485017 Review.
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases characterized by progressive weakness and atrophy of scapular and pelvic muscles, with either a dominant or recessive autosomic mode of inheritance …
Limb girdle muscular dystrophies (LGMDs) are a group of clinically heterogeneous genetic diseases characterized by prog …
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.
Sorimachi H, Ono Y, Suzuki K. Sorimachi H, et al. Adv Exp Med Biol. 2000;481:383-95; discussion 395-7. doi: 10.1007/978-1-4615-4267-4_23. Adv Exp Med Biol. 2000. PMID: 10987085 Review.
The skeletal muscle-specific calpain homologue, p94 (also called calpain 3), is essential for normal muscle function. A mutation of the p94 gene causes limb-girdle muscular dystrophy type 2A (LGMD2A), which is one type of autoso …
The skeletal muscle-specific calpain homologue, p94 (also called calpain 3), is essential for normal muscle function. A mutation of the p94 …
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.
Beckmann JS, Spencer M. Beckmann JS, et al. Neuromuscul Disord. 2008 Dec;18(12):913-21. doi: 10.1016/j.nmd.2008.08.005. Epub 2008 Oct 29. Neuromuscul Disord. 2008. PMID: 18974005 Free PMC article. Review.
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an autosomal recessive and progressive form of limb girdle muscular dystrophy called limb girdle muscular dystrophy type …
Thirteen years ago it was discovered that mutations in calpain 3 (CAPN3) result in an autosomal recessive and progressive form …