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Congenital muscular dystrophy / Fukutin / Dystroglycan / POMT1 / Laminin / Neuronal migration disorder / POMT2 / Dystrophin / Fukuyama congenital muscular dystrophy / Health / Muscular dystrophy / Walker–Warburg syndrome


Orphanet Journal of Rare Diseases BioMed Central
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City

Naarden / Kano / April The / Toronto / /

Company

Walker AE / LG / Lehesjoki AE / Culligan KG / Perini / Moore SA / Farrell SA / Creative Commons / BioMed Central Ltd. / Shimizu / /

Country

Netherlands / Italy / Canada / /

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Event

Product Issues / /

Facility

The Hospital / University Avenue / University of Toronto / /

IndustryTerm

satellite cell nuclei / brain magnetic resonance imaging / brain imaging / /

MedicalCondition

Glaucoma / Severe classical congenital muscular dystrophy / microcephaly / neuromuscular disorders / lissencephaly / inherited muscle disease / muscular dystrophy / ocular colobomas / Dandy-Walker malformation / Rare Diseases / eye abnormalities / hydrocephalus / JE / seizures / occipital encephalocele / buphthalmos / retinal detachment / ears and cleft lip / muscle weakness / CMD / Muscleeye-brain disease / autosomal recessive congenital muscular dystrophy / brain and eye abnormalities fcmd / encephalocele / coloboma / disorder / Hydrocephaly / autosomal recessive disorder / congenital cataracts / merosin-deficient congenital muscular dystrophy / neuronal migration disorder / WalkerWarburg syndrome / several muscular dystrophies / necrosis / mental retardation / dysplasia-muscular dystrophy / cataracts / disease / rare disease / undescended testes / occasional seizures / brain abnormalities / rapid muscle dysfunction / generalized hypotonia / severe congenital muscular dystrophy / muscular dystrophies / retinal dysplasia / congenital muscular dystrophy / Deficiency / contractures / congenital muscular dystrophies / /

MedicalTreatment

tube feeding / counseling / Physical therapy / /

Organization

Hospital for Sick Children / University of Toronto / /

Person

Ann Neurol / Jay V / Van Beusekom / Van Coster / Van Der Zwaag / Beltrán-Valero De Bernabé / Van Den Akker / Valero de Barnabe / Valero de Bernabe / Arch Neurol Psychiat / Van Bokhoven / Jiri Vajsar / Harry Schachter / Paul Nurse / /

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Position

Dobyns WB / scientist / Corresponding author / Nurse / /

Product

congenital muscular dystrophy / glycosylation / POMT1 / /

ProvinceOrState

South Carolina / Ontario / /

Region

eastern Italy / northeastern Italy / east Italy / /

Technology

alpha / antibodies / ultrasound / human genome / MRI / magnetic resonance imaging / genotype / using antibodies / /

URL

http /

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