All individuals with variants in gene MME

50 entries on 1 page. Showing entries 1 - 50.
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00245888 - - - F - - - - - - - ? Spastic paraplegia (HP:0001258); Sensory axonal neuropathy (HP:0003390) 1 1 IMGAG
00314365 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00418460 FamMH-1Pat3 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - CMT affected 3 1 Johan den Dunnen
00418461 FamMH-1Pat6 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 3 1 Johan den Dunnen
00418462 FamMH-1Pat7 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 3 1 Johan den Dunnen
00418463 FamMH-1Pat9 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418464 FamMH-1Pat8 PubMed: Hoyer 2022 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00418465 FamMH-1Pat4 PubMed: Hoyer 2022 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00418466 FamMH-2Pat5 PubMed: Hoyer 2022 3-generation family, 4 affected - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418467 FamMH-2Pat6 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418468 FamMH-2Pat7 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 1 1 Johan den Dunnen
00418469 FamMH-3 PubMed: Hoyer 2022 family, 3 affected - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418470 FamMH-3 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418471 FamMH-3 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418472 FamMH-4 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418473 FamMH-5 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418474 FamMH-6Pat4 PubMed: Hoyer 2022 3-generation family, 3 affected carriers, 4 asymptomatic carriers - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418475 FamMH-6Pat2 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418476 FamMH-6Pat7 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418477 FamMH-6Pat5 PubMed: Hoyer 2022 - - - - - - - - - CMT asymptomatic 2 1 Johan den Dunnen
00418478 FamMH-6Pat9 PubMed: Hoyer 2022 - - - - - - - - - CMT asymptomatic 2 1 Johan den Dunnen
00418479 FamMH-6Pat8 PubMed: Hoyer 2022 - - - - - - - - - CMT asymptomatic 3 1 Johan den Dunnen
00418480 FamMH-6Pat10 PubMed: Hoyer 2022 - - - - - - - - - CMT asymptomatic 3 1 Johan den Dunnen
00418481 FamMH-7 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418482 FamMH-8 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418483 FamMH-9 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418484 FamMH-10 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418485 FamMH-11 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418486 FamMH-12 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418487 FamMH-13 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418488 FamMH-14Pat3 PubMed: Hoyer 2022 2-generation family, 3 affected - - - - - - - - CMT affected 3 1 Johan den Dunnen
00418489 FamMH-15 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00418490 FamMH-16 PubMed: Hoyer 2022 - - - - - - - - - CMT affected 2 1 Johan den Dunnen
00434443 - - - - - - - - - - - HMSN - 2 1 Gemeinschaftspraxis für Humangenetik Dresden
00434901 - Journal: Pare 2013 Patient cohort presenting with AEACEI: iatrogenic angioedema induced by ACEi - - United States - - - - - AEACEI Patients presenting with an ACEi angioedema phenotype 1 1 Christian Drouet
00435111 - - - ? - Germany - - - - - HMSN - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00473120 Fam100294Pat250 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - CMT onset 40y old, with difficulty walking & frequent falls; Severe muscle weakness & wasting, distal>proximal, lower>upper limbs; Feet drop; Deformed ankle bones; Bilateral pes cavus; Claw fingers; Hand tremor; Abnormal gait, walk with support; Thenar and hypothenar atrophy; Hearing impairment; Cardiovascular disorder; EDX: chronic severe axonal polyneuropathy. 1 1 Johan den Dunnen
00473254 Fam113249Pat464 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - CMT onset 36y, Hypoesthesia & Paresthesia, feet & hands; Sensory involvement, distal>proximal, lower>upper; Foot dorsiflexor weakness; Muscle atrophy in lower limbs & hand muscles; EMG-NCV: chronic axonal motor > sensory polyneuropathy. 1 1 Johan den Dunnen
00473258 Fam113343Pat468 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - CMT onset foury earlier, muscle crapms, walking and running difficulty, pes cavus, kyphosis,distal lower muscle atrophy, axonal type of sensory-motor polyneuropathy reported in NCV, normal brain MRI. 1 1 Johan den Dunnen
00473315 Fam203199Pat555 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - neuropathy onset 10y earlier, distal lower muscle weakness and atrophy, walking difficulty,axonal sensorimotor polyneuropathy. 1 1 Johan den Dunnen
00473348 Fam205972Pat609 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - neuropathy onset 5y, lower and upper muscle weakness, positive Gower’s sign, pes cavus, gait abnormality. 1 1 Johan den Dunnen
00473391 Fam208046Pat676 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - CMT Result: PositiveAn established or likely cause of the reported phenotype was identified. 1 1 Johan den Dunnen
00473435 Fam210530Pat746 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - neuropathy one younger affected sibling, onset 2y, distal lower muscle weakness, foot drop , pes cavus, toe- heel walking inability and EDX is compatible with chronic motor neuropathy 1 1 Johan den Dunnen
00473467 Fam212892Pat799 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - CMT distal weakness, parasthesia, gait abnormality, heel-toe walking inability, chronic axonal sensorimotor polyneuropathy reported in EDX. 1 1 Johan den Dunnen
00473578 Fam9405210Pat968 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - CMT - 1 1 Johan den Dunnen
00473604 Fam9413864Pat998 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - CMT Myopia; Tooth decay; Muscle atrophy and weakness; Tremor, resting & action in lower and upper limbs; Spasticity, lower & upper limbs; Scoliosis, mild; Truncal ataxia; Hypotonia; Fragile nails; Hypoesthesia & Paresthesia; Pes cavus; Hx. of pulmonary infection & limb fractures; Biopsy: Peripheral neuropathy mixed axonal & demyelinating with focal nerve fiber loss; EMG-NCV: compatible with chronic axonal sensorymotor polyneuropathy. 1 1 Johan den Dunnen
00473648 Fam9506698Pat1062 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - MYOP Positive history for Arsenic poisoning; Haematuria; Muscle weakness; Tingling and numbness, hands and feet; Farsightedness; Astigmatism; Muscle weakness, lower limbs; decreased sensation, Feet, bilateral; Difficulty rising from seated position; Difficulty climbing stairs; MRI of tight: focal prominent fat replacement in right gracillis muscles and minimal fat replacement in bilateral gluteal muscles (Dr.AghaGhazvini-1394); EMG-NCV: acute myogenic process involving lower limbs and proximal part of upper limbs, very mild axonal sensory polyneuropathy in distal parts of lower limbs; Elevated level of serum CK; Muscle biopsy: fiber type grouping with no atrophic change. 1 1 Johan den Dunnen
00473713 Fam9603011Pat1148 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - neuropathy Muscle weakness, progressive, upper/lower limbs, legs>arms, distal>proximal; Difficulty walking, climbing steps, running & rising from seated position; Lordosis; Hand tremor; Flat feet; Abnormal gait; EMG-NCV: compatible with motor neuron disease/polyradiculopathy. 1 1 Johan den Dunnen
00473768 Fam9614240Pat1223 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - NMD Muscle spasm in lower ext.; Muscle weakness, lower limbs, distal>proximal; Mild wasting in distal of legs; Difficulty walking, running and climbing steps; Foot drop, mild; Numbness when walking long; Abnormal gait; EMG-NCV: chronic ant horn cell dis or motor polyneuropathy predominantly lower limbs, lumbosacral polyradiculopathy should be excluded. 1 1 Johan den Dunnen
00473918 Fam9900806Pat1438 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - CMT onset since 3y ago with muscle weakness due to neuropathy in distal of lower limbs; Pes cavus; Claw toes; Hand tremor, intention; Imbalance; GI endoscopy: possible spastic lower esophageal sphincter, Achalasia; EMG-NCV: chronic sensory motor axonal polyneuropathy or plexopathy in lower limbs; Proteinuria. 1 1 Johan den Dunnen
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