A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency


Nemaline myopathy (NM) is a heterogeneous muscular congenital myopathy which is slowly progressive or non-progressive disease. The estimated prevalence of NM is 1:50,000 live births and the mode of inheritance is autosomal recessive, dominant or de novo [1–3]. It is associated with limb and respiratory muscle weakness and appearance of “thread like” structures, or nemaline bodies, in muscle fibres [4]. The clinical spectrum ranges from severe neonatal onset associated with early death to late onset with slow progression [5,6].


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