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Table 1 Clinical and histopathological features of the two reported stop-loss mutations and our case

From: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

No.

Mutation

Age

Sex

Onset

Family history

Predominantly affected muscles

Cardiac involvement

Respiratory involvement

EMG

Muscle biopsy

1

c.5807 A > G p.X1936Trp

62

M

childhood (as CFTD)

yes

proximal

no

no

myopathic

hyaline bodies

2

c.5808 G > C p.X1936Tyr

39

F

adult

no

distal axial (and proximal)

no

no

myopathic

cores

3a

c.5807 A > T p.X1936Leu

57

M

childhood neck weakness

no

proximal, more severe neck weakness

no

no

myopathic

hyaline bodies

  1. aour patient, reported in this case report