TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement

Neuromuscular Disorders

Volumn 26, Issue 7, 2016, Pages 459-461

  Astrea, Guja ^a   Pezzini, Ilaria ^a   Picillo, Ester ^b   Pasquariello, Rosa ^a   Moro, Francesca ^a   Ergoli, Manuela ^b   D'Ambrosio, Paola ^b   D'Amico, Adele ^c   Politano, Luisa ^b   Santorelli, Filippo Maria ^a  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Cochlear dysplasia; Congenital muscular dystrophy; Limb girdle muscle weakness; Polymicrogyria; TMEM5

Indexed keywords

CREATINE KINASE; DYSTROGLYCAN; MEMBRANE PROTEIN; TMEM5 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COCHLEAR DYSPLASIA; CREATINE KINASE BLOOD LEVEL; DEGENERATIVE DISEASE; DISEASE SEVERITY; DYSPLASIA; DYSTROGLYCANOPATHY; GENE; GENE MUTATION; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; LOW BIRTH WEIGHT; MALE; MICROGYRIA; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; NEUROIMAGING; NEUROPSYCHOLOGICAL TEST; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY DISTRESS; TMEM5 GENE; BRAIN; DIAGNOSTIC IMAGING; GENETICS; METABOLISM; PATHOPHYSIOLOGY; PHENOTYPE;

ADOLESCENT; BRAIN; DYSTROGLYCANS; HUMANS; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; PHENOTYPE;

EID: 84975503718     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2016.05.003     Document Type: Article

References (6)

1. [1] Muntoni, F., Torelli, S., Wells, D.J., Brown, S.C., Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies. Curr Opin Neurol 24 (2011), 437–442.
2. [2] Jae, L.T., Raaben, M., Riemersma, M., et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340 (2013), 479–483.
3. [3] Belaya, K., Rodríguez Cruz, P.M., Liu, W.W., et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 138 (2015), 2493–2504.
4. [4] Vuillaumier-Barrot, S., Bouchet-Seraphin, C., Chelbi, M., et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 91 (2012), 1135–1143.
5. [5] Godfrey, C., Clement, E., Mein, R., et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130 (2007), 2725–2735.
6. [6] Mercuri, E., Muntoni, F., The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol 72 (2012), 9–17.