Key result
Fatty-acid patterns of muscle phospholipids likely distinguish recessive from dominant myotonia congenita without genetic data.
Population
Patients with myotonia congenita
Design
Review
Authors
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Standard evaluations cannot genotype myotonia congenita; leaves open fatty-acid profiling as sole non-genetic distinguisher pending validation.
Clinical, histologic, and electromyographic investigations alone cannot reliably distinguish between autosomal dominant and recessive forms of myotonia congenita, with the only probable difference being muscle phospholipid fatty-acid patterns.
Kuhn et al. (1979) conducted a review in Myotonia congenita. Autosomal recessive (Becker) form of myotonia congenita vs. Autosomal dominant form was evaluated on Distinguishing features between autosomal dominant and recessive forms. The autosomal recessive and dominant forms of myotonia congenita can probably only be distinguished by the fatty-acid pattern of muscle phospholipids in the absence of genetic data.
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