Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features

Zohar Argov, Menachem Sadeh, Kineret Mazor, Dov Soffer, Esther Kahana, Iris Eisenberg, Stella Mitrani-Rosenbaum, Isabelle Richard, Jacques Beckmann, Sharon Keers, Rumaisa Bashir, Kate Bushby, Hanna Rosenmann

Research output: Contribution to journalArticlepeer-review


The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this mutation is calculated to be ~10% in this population, in which the disease prevalence is at least 1 per 1300 adults. Twenty-nine patients from 12 families were all homozygous for the same mutation. However, clinical features were heterogeneous even within the same family: in half of the patients onset was in the distal muscles of the legs, which is similar to Miyoshi myopathy, while in others onset was in the proximal musculature, which is similar to other forms of limb-girdle dystrophies. Age at onset varied from 12 to 28 years (mean 20.3 ± 5.5 years). One patient was presymptomatic at age 28 years. Progression was slow regardless of age of onset, patients remaining ambulatory until at least 33 years. Five patients described subacute, painful enlarged calves as an early, unusual feature. The variable features in this ethnic cluster contribute to the definition of the clinical spectrum of dysferlinopathies in general. The cause of the observed heterogeneity remains unclear.

Original languageEnglish
Pages (from-to)1229-1237
Number of pages9
Issue number6
StatePublished - Jun 2000
Externally publishedYes


  • Distal myopathy
  • Dysferlin
  • Muscle hypertrophy
  • Muscular dystrophy


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