![]() The phenotype and muscle biopsy abnormalities are variable however, centralized nuclei and disproportionate fiber size have been the common histopathological features. ![]() None of the patients had facial weakness, dysphagia, or cardiac involvement. Additional features are winged scapulas, hyperlordosis, scoliosis, and mildly decreased respiratory vital capacity a waddling gait, quadriceps, and calf hypertrophy have also been reported in some patients. Affected individuals are hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness, which mainly affects the proximal upper limb and distal lower limbs. It manifests as slowly progressive muscle weakness that begins in infancy or early childhood. The disease typically runs in families and is inherited in an autosomal recessive manner. To date, only three causative mutations have been described in six patients. ![]() MAP3K20-related myopathy (MAP3K20-RM) was first described in 2017 in three families of different ethnic backgrounds with overlapping phenotypes. ![]() Centronuclear myopathy-6 with fiber disproportion (CNM6 ) is a rare disorder caused by pathogenic variants in the gene encoding mitogen-activated protein triple kinase 20 (MAP3K20), also known as ZAK.
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