Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement

Simona Saredi, Alessandra Ruggieri, Elisa Mottarelli, Anna Ardissone, Simona Zanotti, Laura Farina, Lucia Morandi, Marina Mora, Isabella Moroni

Research output: Contribution to journalArticle

Abstract

Hypoglycosylation of α-dystroglycan characterizes a subgroup of muscular dystrophies of variable severity, including Fukuyama congenital muscular dystrophy. We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced α-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement. Mutations in the fukutin gene can be associated with much milder phenotypes than classical Fukuyama congenital muscular dystrophy, and, although rare, can occur in non-Japanese.

Original languageEnglish
Pages (from-to)845-848
Number of pages4
JournalMuscle and Nerve
Volume39
Issue number6
DOIs
Publication statusPublished - Jun 2009

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Walker-Warburg Syndrome
Dystroglycans
Muscular Dystrophies
Central Nervous System
Mutation
Muscle Hypotonia
Muscular Diseases
Genes
Parturition
Phenotype
Biopsy
Brain

Keywords

  • α-dystroglycan
  • α-dystroglycanopathies
  • FKTN
  • Fukutin
  • Fukuyama congenital muscular dystrophy

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Physiology (medical)
  • Cellular and Molecular Neuroscience

Cite this

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement. / Saredi, Simona; Ruggieri, Alessandra; Mottarelli, Elisa; Ardissone, Anna; Zanotti, Simona; Farina, Laura; Morandi, Lucia; Mora, Marina; Moroni, Isabella.

In: Muscle and Nerve, Vol. 39, No. 6, 06.2009, p. 845-848.

Research output: Contribution to journalArticle

Saredi, Simona ; Ruggieri, Alessandra ; Mottarelli, Elisa ; Ardissone, Anna ; Zanotti, Simona ; Farina, Laura ; Morandi, Lucia ; Mora, Marina ; Moroni, Isabella. / Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement. In: Muscle and Nerve. 2009 ; Vol. 39, No. 6. pp. 845-848.
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