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. 2013 Aug 9;22(25):5229–5236. doi: 10.1093/hmg/ddt380

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© The Author 2013. Published by Oxford University Press.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — The myopathy family: genetics, clinical histolopathological and EM findings. (A). Segregation of the HACD1 mutation in the pedigree. Digestion of the 455 bp amplicon of exon 6 with SspI containing the sequence variation NM_014241:c.744C > A results in cleavage into 195 and 260 bp fragments. Inset: sequence of the corresponding c.744C > A mutation resulting in p.Tyr248Stop. Patients were homozygous for the mutation; parents and the healthy sibling were heterozygous, and a healthy control is homozygous for the normal sequence. The genotyped individuals are marked by ‘*’. (B) Photographs of patients: (a) Patient III-1 at the age of 8 months sitting with support. Note facial weakness and dropping shoulders. (b) Patient III-2 at age 1 and 8 months. Note facial weakness, drooping shoulders and pectus excavatus. (c) and (d) correlate to Patients III-5 and III-6, ages 14 and 3 years, respectively. Note facial weakness and ptosis of the right eye in the latter. Permissions from guardians were granted for all shown photographs. (C) Histology and EM of core needle biopsy: (a)Frozen sections from Patient III-8 at the age of 2 years stained with H&E display focal variation in myofiber diameter (black arrow). Large, hypertrophic myofibers (most of them 35–40 μm in diameter) are scattered among smaller myofibers (normal diameter for age (∼20 μm) and small for age (∼13–16 μm in diameter)), occasionaly in small groups (white arrow). (b) Only isolated internally (centrally) displaced nuclei are seen (yellow arrow). (c) On NADH histochemical stain most hypertrophic myofibers are type 2, while most small fibers are type 1. There are no significant changes in the cytoarchitecture. (d) Electron microscopy is unremarkable. (D) Histology of open biopsy: (a) paraffin embedded and frozen sections from Patient III-5 at age 1 year stained with H&E display marked variation in myofiber diameter. In many areas, hypertrophic myofibers (most of them 20–30 μm in diameter) are scattered among smaller myofibers (normal diameter for age ∼18 μm in diameter and small for age ∼10–15 μm in diameter), occasionally in small groups. Only isolated internally (centrally) displaced nuclei are seen (yellow arrow). (b–d) On enzyme-histochemical staining (b, NADH; c, ATPase 4.3; d, ATPase 9.4), most scattered hypertrophic myofibers are type 2, while most (>90%) small fibers are type 1. There is also a relative increase of type 1 myofibers (∼80%).