Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
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.
Saredi
Simona
S
Division of Neuromuscular Diseases and Neuroimmunology, Muscle Cell Biology Laboratory, Foundation Neurological Institute C. Besta, Via Temolo 4, 20126 Milano, Italy.
Ruggieri
Alessandra
A
Mottarelli
Elisa
E
Ardissone
Anna
A
Zanotti
Simona
S
Farina
Laura
L
Morandi
Lucia
L
Mora
Marina
M
Moroni
Isabella
I
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
C113587:FKTN protein, human; D005819:Genetic Markers; D007797:Laminin; D008565:Membrane Proteins; C102645:laminin alpha 2; D049030:Dystroglycans