GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description

“…This occurs when inheritance of an autosomal recessive disorder appears to mimic that of an autosomal dominant one, due to high frequency of the mutant allele within families, and a marriage of an affected individual homozygous for the pathogenic variant with an unaffected individual carrying the pathogenic variant in a heterozygous state. This phenomenon has previously been described in GNE myopathy in a Roma pedigree from Bulgaria, where cryptic consanguinity resulted in pseudodominant inheritance . In addition, further investigation into family histories of the Bedouin Kuwaiti families revealed that 3 of 5 pedigrees (KW‐1, 2, and 4) share a fifth grandparent.…”

“…GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), distal myopathy with rimmed vacuoles (DMRV), and Nonaka myopathy, is an adult‐onset hereditary myopathy with distal onset and relative quadriceps sparing . It is autosomal recessive and results from mutations in the GNE gene encoding UDP‐ N ‐acetylglucosamine 2‐epimerase/ N ‐acetylmannosamine kinase.…”

“…Serum creatine kinase (CK) levels are normal to mildly elevated. Rimmed vacuoles are seen in fibers of affected muscles …”

Limb-girdle muscular dystrophies in India: A review

“…[83] Two other founder mutations have been recognized in Japanese population p.D207V[8485] and p.V603 L.[85] Recently, European Roma Gypsies has been detected to have founder mutation p.I618T. [86] p.A662V and p.V727M are a frequently found mutation in Southeast Asia. [878889] A potential founder mutation p.A409T was described in a cohort of GNE myopathy patients from the British Islands.…”

Myopathie GNE

“…En Inde (Nalini, 2013), il faut distinguer la partie méridionale et celle plus septentrionale du sous-continent avec deux spectres mutationnels distincts. En Europe, on retiendra surtout l'existence d'un cluster de patients découvert en Bulgarie par Ivailo Tournev au sein de la communauté Rom (Chamova, 2015). Ces derniers sont porteurs à l'état homozygote d'une mutation décrite également chez des patients indiens originaires du Rajasthan.…”