Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: Evidence for a novel CMD syndrome

Neuromuscular Disorders

Volumn 10, Issue 8, 2000, Pages 541-547

  Villanova, Marcello ^a   Mercuri, Eugenio ^b   Bertini, Enrico ^c   Sabatelli, Patrizia ^d   Morandi, Lucia ^e   Mora, Marina ^e   Sewry, Caroline ^b,f   Brockington, Martin ^b   Brown, Susan C ^b   Ferreiro, Ana ^g   Maraldi, Nadir M ^a,d   Toda, Tatsushi ^h   Guicheney, Pascale ^g   Merlini, Luciano ^a   Muntoni, Francesco ^b  

^a RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d CNR   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h UNIVERSITY OF TOKYO   (Japan)

Author keywords

Congenital muscular dystrophy; Immunofluorescence; Italian families; Magnetic resonanace imaging

Indexed keywords

CREATINE KINASE; MEROSIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME 6Q; CHROMOSOME 9Q; CLINICAL FEATURE; DISEASE CLASSIFICATION; ENZYME BLOOD LEVEL; FEMALE; GASTROCNEMIUS MUSCLE; GENETIC LINKAGE; HUMAN; IMMUNOFLUORESCENCE; ITALY; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SYNDROME;

EID: 0033794412     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00139-5     Document Type: Article

References (18)

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