Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation

Muscle and Nerve

Volumn 45, Issue 5, 2012, Pages 752-755

  Al Zaidy, Samiah A ^a   Baskin, Berivan ^a   Hawkins, Cynthia ^a   Yoon, Grace ^a   Ray, Peter N ^a   Vajsar, Jiri ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

dystroglycan; Congenital muscular dystrophy; LAMA2; POMT1; Walker Warburg syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALPHA DYSTROGLYCAN; CALPAIN 3; CAVEOLIN 3; CREATINE KINASE; DYSFERLIN; DYSTROPHIN; LAMININ ALPHA2; MANNOSYLTRANSFERASE; MEROSIN; PROTEIN O MANNOSYLTRANSFERASE 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CESAREAN SECTION; CONNECTIVE TISSUE; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; GENETIC SCREENING; GESTATIONAL AGE; GLYCOSYLATION; HEAD CIRCUMFERENCE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MOTOR PERFORMANCE; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; QUADRICEPS FEMORIS MUSCLE; SKELETAL MUSCLE; TENDON REFLEX; TIBIALIS ANTERIOR MUSCLE; WEAKNESS;

BRAIN; CREATINE KINASE; DYSTROGLYCANS; ELECTROMYOGRAPHY; GENETIC TESTING; GLYCOSYLATION; HUMANS; INFANT; LAMININ; MALE; MANNOSYLTRANSFERASES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE;

EID: 84859772532     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23274     Document Type: Article

References (8)

1. Beltrán-Valero De Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, et al. Mutations in the O-mannosyltransferase gene pomt1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71: 1033-1043.
2. Vajsar J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Dis 2006; 1: 29. Review.
3. Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord 2008; 18: 675-657.
4. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725-2735.
5. van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006; 27: 453-459.
6. Mercuri E, Sewry CA, Brown SC, Brockington M, Jungbluth H, DeVile C, et al. Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity? Neuropediatrics 2000; 31: 186-189.
7. Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001; 69: 1198-1209.
8. Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, et al. POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG. Neurology 2004; 62: 1009-1011.