Table 1

Summary of affected individuals, clinical, pathological, and genetic findings

PatientAgeMHSexCDHSpineFacial weaknessSkeletal weaknessRespiratory impairmentBiopsyDNA
A113 m+ (?)F+Scoliosis++−Marked increase in connective tissue, central cores, type 1 fibre uniformityAla4940Thr exon103
A230 y−F−Normal+−−Not doneAla4940Thr exon103
B16 y−M−Scoliosis+++Multiple mini-cores, type 1 fibre uniformityArg4893Trp exon 102
B216 y−F−Scoliosis+++Multiple mini-cores, type 1 fibre uniformityArg4893Trp exon 102
B338 y−F−Scoliosis+++Central cores, type 1 fibre uniformityArg4893Trp exon 102
C13 m−F+Normal−+−No cores, type 1 fibre uniformityTyr4864Cys exon 102
C23 y+ (?)M−Lordosis++−Central and peripheral cores, type 1 fibre uniformityTyr4864Cys exon 102
C333 y−F−Scoliosis+++Multiple mini-cores, type 1 fibre predominanceTyr4864Cys exon 102
C442 y−F−Scoliosis++−Not doneTyr4864Cys exon 102
C544 y−M−Normal−−−Not doneTyr4864Cys exon 102
D11 y−M+Lordosis++−Central cores, type 1 fibre uniformityArg4861His exon 101