Myopathy caused by variation in FKRP

MedGen UID:: 986525
•Concept ID:: CN305637
•: Disease or Syndrome

Synonyms:	FKRP myopathy; FKRP-related myopathy; myopathy caused by mutation in FKRP; myopathy caused by variation in FKRP

Monarch Initiative:	MONDO:0700066

Definition

Any myopathy in which the cause of the disease is a variation in the FKRP gene. [from MONDO]

Recent clinical studies

Etiology

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

Magri F, Colombo I, Del Bo R, Previtali S, Brusa R, Ciscato P, Scarlato M, Ronchi D, D'Angelo MG, Corti S, Moggio M, Bresolin N, Comi GP
BMC Neurol 2015 Sep 24;15:172. doi: 10.1186/s12883-015-0428-8. PMID: 26404900 Free PMC Article

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS
Eur J Hum Genet 2004 Jan;12(1):38-43. doi: 10.1038/sj.ejhg.5201087. PMID: 14523375

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Diagnosis

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.

Belhassen I, Menassa R, Sakka S, Michel-Calemard L, Streichenberger N, Ayed DB, Bouattour N, Dammak M, Mhiri C
Acta Myol 2023;42(4):106-112. Epub 2023 Dec 31 doi: 10.36185/2532-1900-391. PMID: 38406381 Free PMC Article

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.

See all (2)