Figures 6a-6d: Observation 32, pedigree 8, the proband aged 60. Severe atrophy of the left pectoralis major muscle, especially of its sternocostal part and partly clavicular one; displacement of the shoulder girdle downwards and forwards (a), the patient cannot abduct his arms to the horizontal level (b) and stand up on the heels (c) but can stand up on the toes; preservation of muscle bulk in thighs (d).