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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture

Fig. 1

Pedigrees and mutations. a Two unrelated families (A, B) of Jewish Moroccan origin presenting with a unique phenotype of skeletal myopathy. b Severe contracture of the neck extensors and dorsal para-spinal muscles, prohibiting flexion of the neck (individual 6, family A, 28 year old male, in maximal neck flexion). c Sanger sequencing demonstrating the two novel MYH7 rod domain proline substitution mutations c.4309G>C (p.Ala1437Pro) and c.4301G>C (p.Arg1434Pro) in affected individual 6 of family A and individual 2 of family B, respectively

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