Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review

Figures

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  Fig. 1. Family trees of the patients (A) and MYPN mutational spectrum (B). A: Pedigree charts of two patients harboring pathogenic variants in the gene (MYPN) encoding myopalladin that cause cap myopathy. Males and females are indicated by squares and circles, respectively. Filled and unfilled symbols indicate affected and unaffected individuals, respectively, and an oblique line on the symbol indicates a deceased individual. The gray-shaded individual presented with encephalopathy and seizures. The arrows show the probands. The connecting double line between individuals indicates a consanguineous marriage. The homozygous and heterozygous states for the pathogenic variants are designated +/+ and +/−, respectively. B: Schematic representation of all reported and current mutations and their location on MYPN. The pathogenic variants identified in this study are enclosed in the box above the structure and the mutations reported in the literature are shown below it. Variant c.2304delC was reported in two cases from one family and is indicated as “[×2].” Unfilled boxes indicate coding exons, the black box indicates the 5′ noncoding region, and the gray box indicates the 3′ noncoding region.…

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  Fig. 2. Patient 1. Axial T1-weighted magnetic resonance imaging (MRI) of the lower-limb muscles with the Mercuri score, showing fat replacement and atrophy: (A–D) in the gluteus maximus and medius (2b), the gluteus minimus (2a), the posterior compartment of the thigh (2b), and the anterior and medial compartments of the thigh (2a). Note the distinctive and severe volume loss and fatty changes in the sartorius (2b) and gracilis (2b). (E–H) Axial T2-weighted fat-saturated MRI of the lower-limb musculature showing no significant edema in the involved muscles. Lt: left, Rt: right.

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  Fig. 3. Patient 2. A–E: Photographs of the patient taken at age 30 years. Note the elongated face, low-set ears, mild ptosis, mild facial weakness, and normal eye movements. F and G: Hands and feet appear normal except for mild hammertoes.