A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan

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Dincer P. R., Balci B., Yuva Y., Talim B., Brockington M., Dincel D., ...Daha Fazla

NEUROMUSCULAR DISORDERS, cilt.13, sa.10, ss.771-778, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 10
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1016/s0960-8966(03)00161-5
  • Dergi Adı: NEUROMUSCULAR DISORDERS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.771-778
  • Anahtar Kelimeler: LGMD2, autosomal recessive limb girdle muscular dystrophy, mental retardation, microcephaly, alpha-dystroglycan, EYE-BRAIN DISEASE, CHROMOSOME 6Q2, BETA-SARCOGLYCAN, GENE, MUTATIONS, DEFICIENCY, LAMININ, MUSCLE, LOCALIZATION, COMPLEX
  • Hacettepe Üniversitesi Adresli: Evet

Özet

The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized by severe mental retardation but normal brain imaging. Immunocytochemical studies revealed a significant selective reduction of alpha-dystroglycan expression in the muscle biopsies. Linkage analysis excluded known loci for both limb girdle muscular dystrophy and congenital muscular dystrophies in the consanguineous families. We consider that this represents a novel form of muscular dystrophy with associated brain involvement. The biochemical studies suggest that it may belong to the growing number of muscular dystrophies with abnormal expression of alpha-dystroglycan. (C) 2003 Published by Elsevier B.V.