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. 2009 Aug 31;132(11):3165–3174. doi: 10.1093/brain/awp221

Figure 1.

Figure 1

Pedigrees of three families suggested a maternal inheritance. RFLP analysis for m.14674T>C in the family of Patient 14 revealed that the mutation is homoplasmic in all maternal individuals and absent in the fathers. The two brothers, at ages 8 and 10 years, showed signs of a mild residual myopathy. P14 (III:1) has a myopathic face and both patients (III:1, III:2) show scapular winging.