Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäre Myokymie Typ 1

Die hereditäre Myokymie vom Typ 1 ist eine autosomal dominante Erkrankung, die durch wellenförmige Muskelkontraktionen gekennzeichnet ist und mit einer Hypomagnesiämie einhergeht.

Gliederung

Hypomagnesiämie
EGFR
Gitelman-Syndrom
Hereditäre Myokymie Typ 1
KCNA1
Hypomagnesiämie mit Hypercalciurie und Nephrocalcinose
Hypomagnesiämie mit Hypercalciurie, Nephrocalcinose und Augenbeteiligung
Hypomagnesiämie mit Normocalciurie
Intestinale Hypomagnesiämie mit sekundärer Hypocalciämie
Isolierte dominante Hypomagnesiämie
Nierenzysten und Diabetes (RCAD)
Renale Hypomagnesiämie 6
TRPM7

Referenzen:

1.

Eunson LH et al. (2000) Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

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2.

Herson PS et al. (2003) A mouse model of episodic ataxia type-1.

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3.

Chen H et al. (2007) Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

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4.

Glaudemans B et al. (2009) A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

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5.

Browne DL et al. (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.

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6.

Brandt T et al. () Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).

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7.

VanDyke DH et al. (1975) Hereditary myokymia and periodic ataxia.

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8.

Vaamonde J et al. (1991) Hereditary paroxysmal ataxia with neuromyotonia.

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9.

Jen JC et al. (2007) Primary episodic ataxias: diagnosis, pathogenesis and treatment.

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10.

Graves TD et al. (2010) Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

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11.

Isaacs H et al. (1961) A SYNDROME OF CONTINUOUS MUSCLE-FIBRE ACTIVITY.

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12.

Brunt ER et al. (1990) Familial paroxysmal kinesigenic ataxia and continuous myokymia.

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13.

Gancher ST et al. (1986) Autosomal dominant episodic ataxia: a heterogeneous syndrome.

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14.

Mertens HG et al. (1965) [Neuromyotonia].

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15.

McGuire SA et al. (1984) Hereditary continuous muscle fiber activity.

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16.

Ashizawa T et al. (1983) A dominantly inherited syndrome with continuous motor neuron discharges.

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17.

Lubbers WJ et al. (1995) Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

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18.

Litt M et al. (1994) A gene for episodic ataxia/myokymia maps to chromosome 12p13.

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19.

Hanson PA et al. (1977) Contractures, continuous muscle discharges, and titubation.

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