Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
CAPN3
Genetics
Genotype/phenotype
Limb-girdle-muscular-dystrophy
Journal
Neurogenetics
ISSN: 1364-6753
Titre abrégé: Neurogenetics
Pays: United States
ID NLM: 9709714
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
received:
27
04
2023
accepted:
02
08
2023
medline:
5
10
2023
pubmed:
17
8
2023
entrez:
17
8
2023
Statut:
ppublish
Résumé
Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a family with calpain-related muscular dystrophy caused by two known variants in the calpain 3 gene (CAPN3, NM_000070.3; (I) c.700G>A, p.Gly234Arg and (II) c.1746-20C>G, p.?). Three family members are compound heterozygous and exhibit a relatively homogeneous phenotype characterized by progressive proximal weakness starting in the third to fourth decade of life in the shoulder girdle and spreading to the legs. Two family members affected only by the p.Gly234Arg heterozygous missense variants show a different phenotype characterized by severe exertional myalgia without overt pareses. We conclude that in our family, the missense variant causes a severe myalgic phenotype without pareses that is aggravated by the second intronic variant and put these findings in the context of previous studies of the same variants.
Identifiants
pubmed: 37589857
doi: 10.1007/s10048-023-00728-6
pii: 10.1007/s10048-023-00728-6
pmc: PMC10545561
doi:
Substances chimiques
Calpain
EC 3.4.22.-
Muscle Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
273-278Informations de copyright
© 2023. The Author(s).
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