Genetic neuromuscular disease

Neurology in Practice

Volumn 73, Issue 2, 2002, Pages

  Reilly, Mary M ^a   Hanna, Michael G ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTONOMIC NEUROPATHY; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL HYPOMYELINATING NEUROPATHY; DEMYELINATING DISEASE; DIAGNOSTIC APPROACH ROUTE; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMERY DREIFUSS MUSCULAR DYSTROPHY; FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; GLYCOGEN STORAGE DISEASE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; LIPIDOSIS; MUSCULAR DYSTROPHY; MYOTONIA; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; OCULOPHARYNGEAL MUSCULAR DYSTROPHY; PERIODIC PARALYSIS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY NEUROPATHY; X CHROMOSOME LINKAGE; DISEASE SEVERITY; DNA DETERMINATION; GENETIC ANALYSIS; MUSCLE WEAKNESS; NEUROPATHY; PERIPHERAL NERVOUS SYSTEM; PREVALENCE; REFLEX DISORDER; REVIEW; SENSORY DYSFUNCTION;

CHARCOT-MARIE-TOOTH DISEASE; HEREDITARY MOTOR AND SENSORY NEUROPATHIES; HUMANS; METABOLISM, INBORN ERRORS; MITOCHONDRIAL MYOPATHIES; MOLECULAR DIAGNOSTIC TECHNIQUES; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES;

EID: 0036894968     PISSN: 14737086     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Dyck PJ, Chance P, Lebo R, et al. Hereditary motor and sensory neuropathies. In: Peripheral Neuropathy, 3rd Ed. Dyck PJ, Thomas PK, Griffin JW, et al, eds. Philadelphia: W.B.Saunders Co, 1993:1094-136. A comprehensive description of the clinical and pathological features of CMT.
2. Reilly MM. Classification of the hereditary motor and sensory neuropathies. Curr Opin Neurol 2000;13:561-4. A discussion of the difficulties in classifying CMT.
3. Raeymaekers P, Timmerman V, Nalis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1A (CMT 1A). Neuromuscular Disorders 1991;1:93-7. The description of the first genetic defect in CMT.
4. Nalis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study. Eur J Hum Genet 1996;4:25-33. A guide to the frequency of the chromosome 17 duplication and deletion in Europe.
5. Dyck PJ, Thomas PK, Griffin JW, et al, eds. Neuronal Atrophy and Degeneration Predominantly Affecting Peripheral Sensory and Autonomic Neurons, 3rd Ed. Philadelphia: WB Saunders Co, 1993:1065-93. A comprehensive description of the clinical and pathological features of HSAN.
6. Karparti G, Hilton-Jones D, Griggs RC. Disorders of Voluntary Muscle. Cambridge: Cambridge University Press, 2001. The latest edition of this established text covering all aspects of genetic and acquired muscle disease.
7. Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin related protein gene [FKRP1] identifies limb-girdle muscular dystrophy 21 as a milder allelic variant of congenital muscular dystrophy MDC1C. Human Molecular Genetics 2001;10:2851-9. Recent discovery of FKRP which to date seems to be the most common cause of adult LGMD.
8. Hanna MG. Neuromuscular disease; muscle. Current Opinion in Neurology 2001;14:539-75. The most recent edition of current opinion includes reviews on channelopathies, mitochondrial disorders, muscular dystrophies, distal myopathies, and myaesthenia.