Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystrophy

Neuromuscular Disorders

Volumn 6, Issue 6, 1996, Pages 425-429

  Mercuri, Eugenio ^a   Pennock, Jackie ^b   Goodwin, Fiona ^a   Sewry, Caroline ^a   Cowan, Frances ^a   Dubowitz, Lilly ^a   Dubowitz, Victor ^a,b   Muntoni, Francesco ^a  

^a Dept of Paediatr and Neonatal M ^*  (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Brain MRI; Congenital muscular dystrophy; Laminin 2 deficiency; Merosin deficiency; Peripheral neuropathy

Indexed keywords

LAMININ; MEROSIN;

ALPHA CHAIN DISEASE; ARTICLE; BRAIN MATURATION; CASE REPORT; CENTRAL NERVOUS SYSTEM; DISEASE COURSE; ELECTRONEUROLOGY; FEMALE; HUMAN; INFANT; MUSCULAR DYSTROPHY; MYELINATION; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NERVOUS SYSTEM; PRIORITY JOURNAL; PROTEIN DEFICIENCY; WHITE MATTER;

CENTRAL NERVOUS SYSTEM DISEASES; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; LAMININ; MAGNETIC RESONANCE IMAGING; MUSCULAR DYSTROPHIES; PERIPHERAL NERVOUS SYSTEM DISEASES;

EID: 8044233952     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(96)00383-5     Document Type: Article

References (9)

1. 1. Dubowitz V. Workshop report on 22nd ENMC-sponsored meeting on congenital muscular dystrophy held in Baarn, The Netherlands, May 14-16 1993. Neuromusc Disord 1994; 4: 75-81.
2. 2. Tome F M, Evangelista T, Leclerc A et al. Congenital muscular dystrophy with merosin deficiency. CR Acad Sci Paris, Science de la vie/Life sciences 1994; 317-351.
3. 3. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995; 5: 301-305.
4. 4. Van der Knaap M S, Valk J. Congenital muscular dystrophy. In: Magnetic resonance of myelin, myelination and myelin disorders, 2nd edn. New York: Springer 1995; 267-276.
5. 5. Vainzof M, Marie S K N, Reed U C et al. Deficiency of merosin (laminin M or 2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropaediatrics 1995; 26: 293-297.
6. 6. Mercuri E, Muntoni F, Berardinelli A et al. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 1995; 26: 3-7.
7. 7. Shorer Z, Philpot J, Muntoni F et al. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995; 10: 472-475.
8. 8. Sunada Y, Edgar T S, Lotz B P et al. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 1995; 45: 2084-2089.
9. 9. Villanova M, Malandrini A, Toti P et al. Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol 1996; 28: 1-4.