Key result
Muscle biopsies from two cases of congenital nemaline myopathy demonstrated that muscle fibers are homogeneous with respect to myosin heavy chain composition, identical to the adult slow form.
Case Report (n=2)
Muscle fibers in congenital nemaline myopathy uniformly express the adult slow form of myosin heavy chain.
Suggests uniform slow fiber phenotype in congenital nemaline myopathy; hypothesis-generating and requires validation in larger cohorts.
Muscle biopsies from two sporadic cases of congenital nemaline myopathy were examined for myosin heavy chain composition. Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain band, with a migration rate and antigenic properties identical to that of the adult slow form, as demonstrated by Western blot techniques and by using specific antibody. Immunofluorescent studies indicate that CNM muscle fibers, including the most severely atrophic fibers, are homogeneous with respect to myosin heavy chain composition.
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Biral et al. (1985) conducted a case report in congenital nemaline myopathy (n=2). Muscle biopsy examination was evaluated on myosin heavy chain composition. Muscle biopsies from two cases of congenital nemaline myopathy demonstrated that muscle fibers are homogeneous with respect to myosin heavy chain composition, identical to the adult slow form.
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