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Table 3 Myopathological changes and MYH7 mutations of the patients

From: Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

No Muscle biopsied Age at biopsy Pathological change Nucleotide change Amino acid change Exon affected
A II-6 Biceps 48 Increased fiber size variation, nuclei internalization, type 2 fiber predominance c.4850_4852delAGA p.K1617del [5, 8] 34
A III-1 N.A c.4850_4852delAGA p.K1617del [5, 8] 34
B II-2 Biceps 45 Increased fiber size variation, type 2 fiber predominance c.4985G > C p.R1662P [15] 35
B III-1 N.A c.4985G > C p.R1662P [15] 35
C III-1 Tibialis anterior 20 Increased fiber size variation, nuclei internalization, type 2 fiber predominance, fiber type grouping, abnormal mitochondrial c.4626_4628delAGC p.A1543del 33
D II-2 Biceps 29 Multi-core, increased fiber size variation, small type 1 fibers c.4522_4524delGAG p.E1508del [16] 33
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172