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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Motor and sensory nerve conduction velocities (NCVs) and needle electromyography (EMG) results were reviewed in 26 children with different types of congenital muscular dystrophy (CMD), including patients with mutations in the genes LAMA2, FKRP, and COL6A2. In every patient, at least one EMG examination detected myopathic changes that were predominant in proximal muscles, although EMG performed at birth was normal in two patients. Brief bursts of high-frequency repetitive discharges were electrically elicited in four patients. Uniformly slowed motor NCVs without signs of denervation were observed in seven patients: five merosin-deficient, one merosin-positive, and one with unavailable merosin status. The merosin-deficient neuropathy also involved sensory nerves in three patients and worsened with age in two. In conclusion, myopathic EMG changes were typical and early findings in all types of CMD. An associated neuropathy was detected in most patients with merosin-deficient CMD, and also in a child with normal merosin expression.[1]


  1. EMG and nerve conduction studies in children with congenital muscular dystrophy. Quijano-Roy, S., Renault, F., Romero, N., Guicheney, P., Fardeau, M., Estournet, B. Muscle Nerve (2004) [Pubmed]
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