Neurology: Genetics



Table e-2. Clinical and neurophysiologic findings. Patients F1:III-8 and F14:II-4 were not tested genetically, all other listed individuals had the CHCHD10 c.197G>T variant.

|Patient |

|IV-3 |

|II-2 |

|III-1 |

III-3 |42 |- |LL proximal weakness |Age 55: Proximal LL weakness |- |LL |Age 50: Motor neuropathy, mild sensory findings (SNAP 5.9 µV).

Age 55: decreased sensory amplitude (SNAP 2.6 µV) |1.5x |Reduced muscle mass (thighs), , mild edema (right GACN) |Age 42: Strong denervation atrophy (VL). |ND | |III-4 |47 |- |LL proximal weakness |Age 56: LL weakness, distal UL atrophy, LL vibration sense decreased |- |LL |Age 52: Motor neuropathy, normal sensory findings (SNAP 10 µV). |1.5-2x |Fatty degeneration (GACN), milder in (QF, SF, SM) |ND |ND | |BF=biceps femoris, CK=creatine kinase, COX=cytochrome c oxidase, ENMG=electroneuromyography, FHL=flexor hallucis longus, GACN=gastrocnemius, IEF=intra-epidermal fibers, LL=lower limbs, MF=myelinated fiber, MI=myocardial infarction, N=normal, ND=not done, PCA=prostate cancer, QF=quadriceps femoris, SNAP=sensory nerve action potential (sural nerve), SM=semimebranosus, SN=sural nerve, STCA=stomach cancer, TA=tibialis anterior, UL=upper limbs, ULN=upper limit of normal, UN=unknown, VI=vastus intermedius, VL=vastus lateralis

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