title: Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
abstract: Hypoglycosylation of alpha-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 alpha-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.
authors.affiliation: Division of Neuromuscular Diseases and Neuroimmunology, Muscle Cell Biology Laboratory, Foundation Neurological Institute C. Besta, Via Temolo 4, 20126 Milano, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Saredi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ruggieri
authors.forename: Elisa
authors.initials: E
authors.lastname: Mottarelli
authors.forename: Anna
authors.initials: A
authors.lastname: Ardissone
authors.forename: Simona
authors.initials: S
authors.lastname: Zanotti
authors.forename: Laura
authors.initials: L
authors.lastname: Farina
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
mesh_terms: D017668:Age of Onset; D002490:Central Nervous System / Q000503:physiopathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D049030:Dystroglycans / Q000378:metabolism; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007558:Italy; D007797:Laminin / Q000378:metabolism; D007866:Leg / Q000503:physiopathology; D008565:Membrane Proteins / Q000235:genetics*; D051346:Mobility Limitation; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation / Q000235:genetics*; D044469:Racial Groups
chemical_list: C113587:FKTN protein, human; D005819:Genetic Markers; D007797:Laminin; D008565:Membrane Proteins; C102645:laminin alpha 2; D049030:Dystroglycans