A Journey with LGMD: From Protein Abnormalities to Patient Impact.
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ABSTRACT:
SUBMITTER: Georganopoulou DG
PROVIDER: S-EPMC8190568 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
Publications
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou Dimitra G DG Moisiadis Vasilis G VG Malik Firhan A FA Mohajer Ali A Dashevsky Tanya M TM Wuu Shirley T ST Hu Chih-Kao CK
The protein journal 20210610 4
The limb-girdle muscular dystrophies (LGMD) are a collection of genetic diseases united in their phenotypical expression of pelvic and shoulder area weakness and wasting. More than 30 subtypes have been identified, five dominant and 26 recessive. The increase in the characterization of new genotypes in the family of LGMDs further adds to the heterogeneity of the disease. Meanwhile, better understanding of the phenotype led to the reconsideration of the disease definition, which resulted in eight ...[more]
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