Table 2: Clinical features present in undiagnosed patients as recorded in database for phenotype analysis.

Clinical Feature	Categories for phenotype analysis
Inheritance	Sporadic (no affected relatives) Consistent with recessive inheritance Consistent with dominant inheritance
Age of disease onset	Congenital onset (birth to 2 years) Childhood (2 – 16 years) Adult onset (>16 years)
Sex	Male Female
Pattern of weakness	Proximal only Proximal>distal Proximal and distal Distal>proximal Distal only No weakness
	Upper only Upper >lower Upper and lower Lower>upper Lower only No weakness
Serum CK (IU/L)	Normal 250-999 1,000-2,999 3,000 - 9,999 >10,000
Joint Contractures	Absent Present at 2 or less joint sites Present at 3 or more joint sites
Rigid spine	Present Absent
Scoliosis	Present Absent
Respiratory dysfunction	Present (defined as forced viral capacity (FVC) of <70% predicted for age and height, fall in FVC of >10% sitting / lying, or use of ventilatory support) Absent
Cardiac dysfunction	Present (dysrhythmia, structural abnormality or cardiomyopathy) Absent
Skin abnormalities	Any skin pathology recorded
Learning difficulties	Present Absent
Opthalmoplegia	Present Absent
Other features	Any other relevant features also recorded