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

Table 3 Myopathological changes and MYH7 mutations of the patients

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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