Chapter 24 Congenital muscular disorders
作者： Michel Fardeau , Devon I. Rubin
DOI: 10.1016/S1567-4231(09)70134-0
关键词:
摘要: Publisher Summary This chapter focuses on congenital muscular dystrophies (CMDs) and myopathies (CMs). Most of these disorders are defined at the gene molecular levels, this has deeply transformed both their clinical identification as well pathophysiology. The major types CMDs, level :primary merosin deficient CMD (MDCIA), Fukuyama type (FCMD), muscle-eye-brain disease (MEB), with m. hypertrophy α dystroglycan deficiency (MDCIC), secondary laminin α2 (MDCIB), distal hyperlaxity, early rigid spine syndrome (RSMDI). Electromyography (EMG) is a useful tool in evaluation patients suspected myopathies; however, role utility EMG less important than other muscle diseases.
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