Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects

OPHTHALMOLOGICAL FINDINGS IN A NEW SYNDROME WITH MUSCLE, EYE AND BRAIN INVOLVEMENT

(2009) CHRISTINA RAITTA et al.   ACTA OPHTHALMOLOGICA

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

(2008) Emma M. Clement et al.   ARCHIVES OF NEUROLOGY

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

(2008) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

POMT2, a key enzyme in Walker–Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo

(2008) Mark Lommel et al.   GLYCOBIOLOGY

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

(2008) A.K. Lampe et al.   HUMAN MUTATION

Ethnically diverse causes of Walker-Warburg syndrome (WWS):FCMDmutations are a more common cause of WWS outside of the Middle East

(2008) M. Chiara Manzini et al.   HUMAN MUTATION

Predominant fiber atrophy and fiber type disproportion in early ullrich disease

(2008) Joachim Schessl et al.   MUSCLE & NERVE

A refined diagnostic algorithm for Bethlem myopathy

(2008) D. Hicks et al.   NEUROLOGY

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY

Gene table of monogenic neuromuscular disorder (nuclear genome only)

(2008)   NEUROMUSCULAR DISORDERS

POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

(2008) S. Messina et al.   NEUROMUSCULAR DISORDERS

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

(2008) Adele D’Amico et al.   NEUROMUSCULAR DISORDERS

Primary myopathies and the heart

(2008) Josef Finsterer et al.   SCANDINAVIAN CARDIOVASCULAR JOURNAL

Seizure–genotype relationship in Fukuyama-type congenital muscular dystrophy

(2007) Mieko Yoshioka et al.   BRAIN & DEVELOPMENT

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

(2007) Serap Teber et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Differential diagnosis of congenital muscular dystrophies

(2007) Andrea Klein et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

(2007) Olfa Siala et al.   NEUROMUSCULAR DISORDERS

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

(2007) Hiroshi Manya et al.   NEUROMUSCULAR DISORDERS